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Genetic mutations slowly accumulated over a lifetime change blood production after 70 years of age

<p class="spai-bg-prepared">Ageing is likely caused by the gradual accumulation of molecular damage, or genetic mutations, in the cells of our bodies that occurs over a lifetime. But how this translates into the rapid deterioration in organ function that’s seen after the age of 70 has so far not been clear.</p> <p class="spai-bg-prepared">Now, scientists have discovered that the accumulation of genetic mutations in blood stem cells are likely responsible for the abrupt change in how <a class="spai-bg-prepared" href="https://cosmosmagazine.com/science/biology/why-do-we-have-blood/" target="_blank" rel="noreferrer noopener">blood</a> is produced in the body after 70 years of age.</p> <p class="spai-bg-prepared">The <a class="spai-bg-prepared" href="https://www.nature.com/articles/s41586-022-04786-y" target="_blank" rel="noreferrer noopener">new study</a>, published in <em class="spai-bg-prepared">Nature</em>, points to a change in the diversity of stem cells that produce blood cells as the reason why the prevalence of reduced cell regeneration capacity, <a class="spai-bg-prepared" href="https://www.frontiersin.org/articles/10.3389/fonc.2020.579075/full" target="_blank" rel="noreferrer noopener">cytopenia</a> (one or more blood cell types is lower than it should be), immune disfunction, and risk of blood cancer dramatically rises after 70.</p> <p class="spai-bg-prepared">“We’ve shown, for the first time, how steadily accumulating mutations throughout life lead to a catastrophic and inevitable change in blood cell populations after the age of 70,” says joint-senior author Dr Peter Campbell, head of the Cancer, Ageing and Somatic Mutation Program at the Wellcome Sanger Institute, UK.</p> <p class="spai-bg-prepared">“What is super exciting about this model is that it may well apply in other organ systems too.”</p> <p><strong>Blood cells are made in a process called haematopoiesis</strong></p> <p class="spai-bg-prepared">All of the cells in our blood – including red cells, white cells and platelets – develop in a process called haematopoiesis from haematopoietic stem cells in our bone marrow. These stem cells are what’s known as multipotent progenitor cells, which simply means that they can develop into more than one cell type.</p> <p class="spai-bg-prepared">Researchers were interested in better understanding how this process changes as we age, so they sequenced the entire genomes of 3,579 haematopoietic stem cells from a total of 10 people – ranging in age from newborn to 81 years.</p> <div class="newsletter-box spai-bg-prepared"> <div id="wpcf7-f6-p193434-o1" class="wpcf7 spai-bg-prepared" dir="ltr" lang="en-US" role="form"> <form class="wpcf7-form mailchimp-ext-0.5.61 spai-bg-prepared init" action="/science/mutations-change-blood-production/#wpcf7-f6-p193434-o1" method="post" novalidate="novalidate" data-status="init"> <p class="spai-bg-prepared" style="display: none !important;"><span class="wpcf7-form-control-wrap referer-page spai-bg-prepared"><input class="wpcf7-form-control wpcf7-text referer-page spai-bg-prepared" name="referer-page" type="hidden" value="https://www.google.com/" data-value="https://www.google.com/" aria-invalid="false" /></span></p> <p><!-- Chimpmail extension by Renzo Johnson --></form> </div> </div> <p class="spai-bg-prepared">Using this information, they were able to construct something similar to a family tree (<a class="spai-bg-prepared" href="https://www.nature.com/scitable/topicpage/reading-a-phylogenetic-tree-the-meaning-of-41956/#:~:text=A%20phylogenetic%20tree%2C%20also%20known,genes%20from%20a%20common%20ancestor." target="_blank" rel="noreferrer noopener">a phylogenetic tree</a>) for each stem cell, showing how the relationships between blood cells changes over the human lifespan.</p> <p class="spai-bg-prepared">They found that in adults under 65, blood cells were produced from between 20,000 and 200,000 different stem cells – each contributing roughly equal amounts to production.</p> <p class="spai-bg-prepared">But after 70 years of age they observed a dramatic decrease in the diversity of stem cells responsible for haematopoiesis in the bone marrow. In fact, only 12-18 independent expanded sets of stem cell clones accounted for 30-60% of cell production.</p> <p class="spai-bg-prepared">These highly active stem cells had outcompeted others and progressively expanded in numbers (clones) across that person’s life, and this expansion (called <a class="spai-bg-prepared" href="https://www.nature.com/articles/s41586-022-04785-z" target="_blank" rel="noreferrer noopener">clonal haematopoiesis</a>) was caused by a rare subset of mutations known as driver mutations that had occurred decades earlier.</p> <p class="spai-bg-prepared">“Our findings show that the diversity of blood stem cells is lost in older age due to positive selection of faster-growing clones with driver mutations. These clones ‘outcompete’ the slower growing ones,” explains lead researcher Dr Emily Mitchell, a haematology registrar at Addenbrooke’s Hospital,UK, and PhD student at the Wellcome Sanger Institute, US.</p> <p class="spai-bg-prepared">“In many cases this increased fitness at the stem cell level likely comes at a cost – their ability to produce functional mature blood cells is impaired, so explaining the observed age-related loss of function in the blood system.”</p> <p class="spai-bg-prepared">Which clones became the dominant stem cells varied between individuals, which explains why variation is seen in disease risk and other characteristics in older adults.</p> <p class="spai-bg-prepared">“Factors such as chronic inflammation, smoking, infection and chemotherapy cause earlier growth of clones with cancer-driving mutations. We predict that these factors also bring forward the decline in blood stem cell diversity associated with ageing,” says joint-senior author Dr Elisa Laurenti, assistant professor at the Wellcome-MRC Cambridge Stem Cell Institute, UK.</p> <p class="spai-bg-prepared">“It is possible that there are factors that might slow this process down, too,” she adds. “We now have the exciting task of figuring out how these newly discovered mutations affect blood function in the elderly, so we can learn how to minimise disease risk and promote healthy ageing.”</p> <p><!-- Start of tracking content syndication. Please do not remove this section as it allows us to keep track of republished articles --></p> <p><img id="cosmos-post-tracker" class="spai-bg-prepared" style="opacity: 0; height: 1px!important; width: 1px!important; border: 0!important; position: absolute!important; z-index: -1!important;" src="https://syndication.cosmosmagazine.com/?id=193434&amp;title=Genetic+mutations+slowly+accumulated+over+a+lifetime+change+blood+production+after+70+years+of+age" width="1" height="1" /></p> <p><!-- End of tracking content syndication --></p> <div id="contributors"> <p><em><a href="https://cosmosmagazine.com/science/mutations-change-blood-production/" target="_blank" rel="noopener">This article</a> was originally published on <a href="https://cosmosmagazine.com" target="_blank" rel="noopener">Cosmos Magazine</a> and was written by <a href="https://cosmosmagazine.com/contributor/imma-perfetto" target="_blank" rel="noopener">Imma Perfetto</a>. Imma Perfetto is a science writer at Cosmos. She has a Bachelor of Science with Honours in Science Communication from the University of Adelaide.</em></p> <p><em>Image: Getty Images</em></p> </div>

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Genetic discovery may help scientists reverse hearing loss

<p>Neuroscience researchers have found a master gene that controls the development of special sensory cells in the ears – potentially opening the door to reversing hearing loss.</p> <p>A team led by Jaime García-Añoveros of Northwestern University, US, established that a gene called Tbx2 controls the development of ear hair cells in mice. The findings of their study are <a href="https://www.nature.com/articles/s41586-022-04668-3" target="_blank" rel="noreferrer noopener">published today in <em>Nature</em></a><em>.</em></p> <p><strong>What are hair cells?</strong></p> <p>Hair cells are the sensory cells in our ears that detect sound and then transmit a message to our brains. They are so named because they have tiny hairlike structures called stereocilia.</p> <p>“The ear is a beautiful organ,” says García-Añoveros. “There is no other organ in a mammal where the cells are so precisely positioned.”</p> <p>Hair cells are found in a structure called the organ of Corti, in the cochlea in the inner ear. The organ of Corti sits on top of the basilar membrane.</p> <p>Sound waves are funnelled through our ear canal and cause the eardrum (also known as the tympanic membrane) and ossicles (tiny bones called the malleus, incus and stapes) to vibrate. The vibrations, or waves, are transmitted through fluid in the cochlea, causing the basilar membrane to move as well.</p> <p>When the basilar membrane moves, the stereocilia tilt, causing ion channels in the hair cell membrane to open. This stimulates the hair cell to release neurotransmitter chemicals, which will transmit the sound signal to the brain via the auditory nerve.</p> <figure class="wp-block-embed is-type-video is-provider-youtube wp-block-embed-youtube wp-embed-aspect-16-9 wp-has-aspect-ratio"> <div class="wp-block-embed__wrapper"> <div class="entry-content-asset"> <div class="embed-wrapper"> <div class="inner"><iframe title="2-Minute Neuroscience: The Cochlea" src="https://www.youtube.com/embed/WeQluId1hnQ?feature=oembed" width="500" height="281" frameborder="0" allowfullscreen="allowfullscreen"></iframe></div> </div> </div> </div> </figure> <h2> </h2> <p><strong>Hair cells and hearing loss</strong></p> <p>There are actually two types of hair cells: inner and outer. We need both types to hear effectively. The outer hair cells change their shape and amplify sound for the inner hair cells, which transmit the vibrations to the brain.</p> <div class="newsletter-box"> <div id="wpcf7-f6-p190195-o1" class="wpcf7" dir="ltr" lang="en-US" role="form"> </div> </div> <p>“It’s like a ballet,” says García-Añoveros. “The outers crouch and jump and lift the inners further into the ear.”</p> <p>Hair cells develop before we are born and do not typically divide to create new versions of themselves. As we age, our hair cells die, <a href="https://cosmosmagazine.com/health/hair-cell-loss-may-explain-hearing-loss/">leading to hearing loss</a>. Loss of outer hair cells is particularly common.</p> <p>According to the US Centers for Disease Control, about 8.5% of adults aged 55-64 in the US experience “disabling” hearing loss, with that number increasing to nearly 25% in people aged 65-74, and 50% in those 75 and older.</p> <p><strong>Could we one day reverse hearing loss?</strong></p> <p>Since hair cells don’t usually divide, we may be able to reverse hearing loss if we can reprogram stem cells or other cells in the ear to become hair cells to replace those that die.</p> <p>Scientists have already produced artificial hair cells, but until now didn’t know how to direct the cell to become an inner or an outer hair cell.</p> <p>The team at Northwestern discovered that a gene called Tbx2 controls the development of both inner and outer hair cells. If Tbx2 is “switched on” to produce the protein TBX2, the cell develops into an inner hair cell. If Tbx2 is “off”, it becomes an outer hair cell.</p> <p>“Our finding gives us the first clear cell switch to make one type versus the other,” García-Añoveros explains.</p> <p>The finding is a step towards learning how we can reprogram the cells that usually provide structural support for the hair cells to become inner or outer hair cells themselves – replacing dead hair cells and preventing or reversing hearing loss.</p> <p>“We can now figure out how to make specifically inner or outer hair cells and identify why the latter are more prone to dying,” García-Añoveros says. “We have overcome a major hurdle.”</p> <p><img id="cosmos-post-tracker" style="opacity: 0; height: 1px!important; width: 1px!important; border: 0!important; position: absolute!important; z-index: -1!important;" src="https://syndication.cosmosmagazine.com/?id=190195&amp;title=Genetic+discovery+may+help+scientists+reverse+hearing+loss" width="1" height="1" data-spai-target="src" data-spai-orig="" data-spai-exclude="nocdn" /></p> <div id="contributors"> <p><em><a href="https://cosmosmagazine.com/science/genetic-discovery-reverse-hearing-loss/" target="_blank" rel="noopener">This article</a> was originally published on <a href="https://cosmosmagazine.com" target="_blank" rel="noopener">Cosmos Magazine</a> and was written by <a href="https://cosmosmagazine.com/contributor/matilda-handlsey-davis" target="_blank" rel="noopener">Matilda Handsley-Davis</a>. Matilda is a science writer at Cosmos. She holds a Bachelor of Arts and a Bachelor of Science (Honours) from the University of Adelaide.</em></p> <p><em>Image: Getty Images</em></p> </div>

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Physical symptoms linked to genetic risk of depression

<p><span style="font-weight: 400;">People who experience physical symptoms such as chronic pain, fatigue and migraines are also more likely to have a higher genetic risk of clinical depression, according to a new study.</span></p> <p><span style="font-weight: 400;">Researchers from the University of Queensland collaborated with the QIMR Berghofer Medical Research Institute at the Royal Brisbane and Women’s Hospital to conduct a new study published in </span><em><a rel="noopener" href="https://jamanetwork.com/journals/jamapsychiatry/article-abstract/2783096" target="_blank"><span style="font-weight: 400;">JAMA Psychiatry</span></a></em><span style="font-weight: 400;">.</span></p> <p><span style="font-weight: 400;">They analysed data from over 15,000 volunteers, who provided information about their mental health history, depression symptoms, and a DNA sample.</span></p> <p><span style="font-weight: 400;">The team found that participants who had a higher genetic risk of developing clinical depression were more likely to experience additional physical symptoms.</span></p> <p><span style="font-weight: 400;">Dr Enda Byrne, a senior research fellow in psychiatric genetics and one of the researchers involved, said the study aimed to improve understanding of the genetic risks of depression and how other symptoms can be used to aid diagnosis.</span></p> <p><img style="width: 500px; height:281.25px;" src="https://oversixtydev.blob.core.windows.net/media/7845012/depression1.jpg" alt="" data-udi="umb://media/e08ca3fc9f134a3c8fb3556dde363b83" /></p> <p><em><span style="font-weight: 400;">Dr Enda Byrnes, the senior author of the latest study on depression and genetic risk. Image: The University of Queensland</span></em></p> <p><span style="font-weight: 400;">“A large proportion of people with clinically-diagnosed depression present initially to doctors with physical symptoms that cause distress and can severely impact on people’s quality of life,” </span><a rel="noopener" href="https://www.scimex.org/newsfeed/genetic-risk-for-clinical-depression-linked-to-physical-symptoms" target="_blank"><span style="font-weight: 400;">he said</span></a><span style="font-weight: 400;">.</span></p> <p><span style="font-weight: 400;">“Our research aimed to better understand the biological basis of depression and found that assessing a broad range of symptoms was important.</span></p> <p><span style="font-weight: 400;">“We wanted to see how genetic risk factors based on clinical definitions of depression differed - from those based on a single question to those based on a doctor’s consultation about mental health problems.”</span></p> <p><strong>Genetic risks of depression, explained</strong></p> <p><span style="font-weight: 400;">Many different factors can contribute to the onset of depression, and there is strong evidence to suggest that genetics can affect the likelihood of developing the mental illness.</span></p> <p><span style="font-weight: 400;">Individuals can be predisposed to developing depression if someone in their family has been diagnosed. If a person’s biological parent has been diagnosed with clinical depression, their genetic risk of developing the illness sits at </span><a rel="noopener" href="https://www.blackdoginstitute.org.au/wp-content/uploads/2020/04/1-causesofdepression.pdf" target="_blank"><span style="font-weight: 400;">about 40 percent</span></a><span style="font-weight: 400;">, with the other 60 percent coming from factors in their environment such as stress and age.</span></p> <p><span style="font-weight: 400;">Previous studies have also examined the role genetics plays in depression, but Dr Byrne said it can be difficult to find genetic risk factors that are specific to clinical depression.</span></p> <p><span style="font-weight: 400;">“Previous genetic studies have included participants who report having seen a doctor for worries or tension - but who may not meet the ‘official’ criteria for a diagnosis of depression,” he said.</span></p> <p><span style="font-weight: 400;">The researchers also stressed the importance of using a large number of samples in order to identify the risk factors for clinical depression but not for other definitions of depression.</span></p> <p><span style="font-weight: 400;">“It is also linked to higher rates of somatic symptoms - that is, physical symptoms that cause distress and can severely impact on people’s quality of life,” Dr Byrne said.</span></p> <p><span style="font-weight: 400;">“Our results highlight the need for larger studies investigating the broad range of symptoms experienced by people with depression.”</span></p> <p><em><span style="font-weight: 400;">Image: Getty Images</span></em></p>

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Genetic link between alcoholism and Alzheimer’s risk discovered

<p><span style="font-weight: 400;">Scientists have found a genetic overlap between alcohol use disorder (AUD) and neurodegenerative disorders such as Alzheimer’s.</span></p> <p><span style="font-weight: 400;">In a </span><a rel="noopener" href="https://www.nature.com/articles/s41467-021-25392-y" target="_blank"><span style="font-weight: 400;">study</span></a><span style="font-weight: 400;"> published in </span><em><span style="font-weight: 400;">Nature Communications</span></em><span style="font-weight: 400;">, the researchers identified several genes associated with alcoholism, including two previously linked to neurodegenerative disorders.</span></p> <blockquote class="twitter-tweet"> <p dir="ltr">First of its kind study using multi-omics approach identifies large list of candidate genes associated with alcohol use disorder - study shows potential genetic link between <a href="https://twitter.com/hashtag/alcoholism?src=hash&amp;ref_src=twsrc%5Etfw">#alcoholism</a>, <a href="https://twitter.com/hashtag/Alzheimers?src=hash&amp;ref_src=twsrc%5Etfw">#Alzheimers</a> disease, &amp; other neurodegenerative disorders <a href="https://t.co/kzautcL6DN">https://t.co/kzautcL6DN</a><a href="https://twitter.com/hashtag/genetics?src=hash&amp;ref_src=twsrc%5Etfw">#genetics</a> <a href="https://t.co/nUNbvYf2L8">pic.twitter.com/nUNbvYf2L8</a></p> — Mount Sinai Genetics (@SinaiGenetics) <a href="https://twitter.com/SinaiGenetics/status/1428699409475309571?ref_src=twsrc%5Etfw">August 20, 2021</a></blockquote> <p><span style="font-weight: 400;">“Several of these genes are also associated with neurodegenerative disorders - an intriguing connection because of alcohol’s ability to prematurely age the brain,” David Goldman, a neurogenetics researcher at the National Institute on Alcohol Abuse and Alcoholism (NIAAA) told </span><span style="font-weight: 400;">The Scientist</span><span style="font-weight: 400;">.</span></p> <p><span style="font-weight: 400;">The scientists compared the genetic data of about 700,000 families involved in the NIAAA’s </span><a rel="noopener" href="https://www.niaaa.nih.gov/research/major-initiatives/collaborative-studies-genetics-alcoholism-coga-study" target="_blank"><span style="font-weight: 400;">Collaborative Studies on the Genetics of Alcoholism</span></a><span style="font-weight: 400;"> (COGA), as well as data from the </span><a rel="noopener" href="https://www.ukbiobank.ac.uk/enable-your-research/approved-research/alcohol-consumption-and-brain-health" target="_blank"><span style="font-weight: 400;">UK Biobank</span></a><span style="font-weight: 400;">, against analyses of adult and foetal brains to determine which genes were silenced or expressed.</span></p> <p><span style="font-weight: 400;">Though the study did identify many genes associated with alcohol use, the team focused on the two genes linked to neurodegenerative disorders: </span><em><span style="font-weight: 400;">SPI1</span></em><span style="font-weight: 400;"> and </span><em><span style="font-weight: 400;">MAPT</span></em><span style="font-weight: 400;">. </span></p> <p><em><span style="font-weight: 400;">SPI1</span></em><span style="font-weight: 400;"> produces a protein that controls the activity of immune cells, while </span><em><span style="font-weight: 400;">MAPT</span></em><span style="font-weight: 400;"> produces a protein found throughout the nervous system called tau.</span></p> <p><strong><em>SPI1</em> linked to Alzheimer’s</strong></p> <p><a rel="noopener" href="https://molecularneurodegeneration.biomedcentral.com/articles/10.1186/s13024-018-0277-1" target="_blank"><span style="font-weight: 400;">Previous research</span></a><span style="font-weight: 400;"> has shown that </span><em><span style="font-weight: 400;">SPI1</span></em><span style="font-weight: 400;"> influenced the likelihood of a person developing Alzheimer’s disease, with some theorising that it influences the activity of microglia, immune cells that are found in the brain.</span></p> <p><span style="font-weight: 400;">In a </span><a rel="noopener" href="https://www.nature.com/articles/s41398-019-0384-y" target="_blank"><span style="font-weight: 400;">study</span></a><span style="font-weight: 400;"> from two years ago, Manav Kapoor, a neuroscientist and geneticist at the Icahn School of Medicine at Mount Sinai and the new paper’s first author, and his team found evidence that people with AUD might have an overactive immune system - and this new paper could help explain their previous findings.</span></p> <p><span style="font-weight: 400;">The new study also found an association between the </span><em><span style="font-weight: 400;">SPI1</span></em><span style="font-weight: 400;"> gene and both heavy drinking and a diagnosis of AUD.</span></p> <p><span style="font-weight: 400;">Though alcoholism is already associated with immune dysfunction, the team found that expression of the </span><em><span style="font-weight: 400;">SPI1</span></em><span style="font-weight: 400;"> gene was higher in some foetal brains.</span></p> <p><span style="font-weight: 400;">Kapoor says this finding suggests that those genetically predisposed to AUD and heavy drinking are also predisposed to developing an overactive immune system.</span></p> <p><span style="font-weight: 400;">If this is the case, when people with particular versions of the gene drink heavily, Kapoor suggests that their immune systems could become overactivated and cause brain immune cells to alter connections between neurons.</span></p> <p><span style="font-weight: 400;">Kapoor bases this theory on a previous </span><a rel="noopener" href="https://stke.sciencemag.org/content/13/650/eaba5754" target="_blank"><span style="font-weight: 400;">study</span></a><span style="font-weight: 400;"> in mice that found that binge drinking activated brain immune cells, which selectively pruned certain synapses and caused the animals to display anxiety-like behaviours.</span></p> <p><span style="font-weight: 400;">The activation of these brain immune cells could result in the pruning of connections to neurons that produce dopamine - the chemical behind the “reward” feeling we get after drinking alcohol.</span></p> <p><span style="font-weight: 400;">As a result, people with certain versions of </span><em><span style="font-weight: 400;">SPI1</span></em><span style="font-weight: 400;"> who start drinking regularly would “have to drink more and more to get the same level of reward”, Kapoor says.</span></p> <p><span style="font-weight: 400;">“And their immune system will get more activated”, pruning more synapses.</span></p> <p><span style="font-weight: 400;">“It will become a vicious cycle,” Kapoor says.</span></p> <p><span style="font-weight: 400;">As for </span><em><span style="font-weight: 400;">MAPT</span></em><span style="font-weight: 400;">, the gene isn’t associated with AUD, but is associated with consuming more drinks per week.</span></p> <p><span style="font-weight: 400;">The tau protein it produces is thought to play a major role in neurodegenerative disorders including Alzheimer’s, Parkinson’s, frontotemporal dementia, and supranuclear palsy.</span></p> <p><span style="font-weight: 400;">However, it is still unclear how tau may factor into the consumption of alcohol.</span></p> <p><strong>Why this matters</strong></p> <p><span style="font-weight: 400;">Joel Gelernter, a geneticist and neurobiologist at Yale University School of Medicine, who was not involved in the study, says the study is “a really necessary step in unravelling the biology of alcohol intake and alcohol use disorder”.</span></p> <p><span style="font-weight: 400;">Kapoor says this work could benefit people in a few ways.</span></p> <p><span style="font-weight: 400;">First, he believes that drugs currently in development to treat neurodegenerative disorders could be repurposed to help people in reducing or stopping drinking.</span></p> <p><span style="font-weight: 400;">Second, it could be a way of reducing a person’s risk for neurodegenerative disorders.</span></p> <p><span style="font-weight: 400;">“If we can identify some group of people that are more at risk of Alzheimer’s disease, we can ask them to reduce their drinking,” he says.</span></p> <p><span style="font-weight: 400;">“That might be beneficial to them.”</span></p> <p><em><span style="font-weight: 400;">Image: Getty Images</span></em></p>

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A genetic mutation makes some people need less sleep

<p><span style="font-weight: 400;">Though most of us feel the consequences of missing out on a full night’s sleep, a lucky few don’t - thanks to a rare genetic mutation.</span></p> <p><span style="font-weight: 400;">According to a study published in </span><em><a rel="noopener" href="https://www.cell.com/neuron/fulltext/S0896-6273(19)30652-X" target="_blank"><span style="font-weight: 400;">Neuron</span></a></em><span style="font-weight: 400;">, some people who can function normally on six hours of sleep carry an altered version of a particular gene, making it the second to be associated with short sleep.</span></p> <p><span style="font-weight: 400;">In their previous research in </span><a rel="noopener" href="https://science.sciencemag.org/content/325/5942/866" target="_blank"><span style="font-weight: 400;">2009</span></a><span style="font-weight: 400;">, the team found a mother and daughter - who felt rested after about six hours of sleep at night - both had a mutation in a gene called </span><em><span style="font-weight: 400;">DEC2</span></em><span style="font-weight: 400;">.</span></p> <p><span style="font-weight: 400;">The </span><em><span style="font-weight: 400;">DEC2</span></em><span style="font-weight: 400;"> gene codes for a protein that stops other genes from expressing. One of these genes that the protein inhibits controls a hormone called orexin, which is known to regulate wakefulness.</span></p> <p><span style="font-weight: 400;">In the follow-up study, the scientists studied another family of naturally short sleepers and have identified another mutation, which they estimate about four in every 100,000 people have.</span></p> <p><span style="font-weight: 400;">The scientists engineered mice to have the same mutation and found that they slept, on average, one hour less per day than control mice without the mutation.</span></p> <p><span style="font-weight: 400;">For the family of humans with the mutation, they slept an average of two hours less per day than those without the mutation.</span></p> <p><span style="font-weight: 400;">The mutated gene, called </span><em><span style="font-weight: 400;">ADRB1</span></em><span style="font-weight: 400;">, encodes a receptor for a neural signalling molecule called noradrenaline.</span></p> <p><span style="font-weight: 400;">In mouse brains, the cells that had this receptor were active while they were awake and quiet during deep sleep, according to the researchers.</span></p> <p><span style="font-weight: 400;">They propose that the mutation makes these neurons more active, which could explain why its human carriers sleep for shorter periods of time.</span></p> <p><span style="font-weight: 400;">Though this research has been conducted on small groups, it could pave the way for the development of drugs that target these kinds of mutations or help those with sleeping disorders feel better while getting little sleep.</span></p>

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Can COVID vaccines affect my genetic code?

<p>The Pfizer and Moderna vaccines are set to become the mainstay of Australia’s COVID-19 vaccine rollout as the year progresses, according to the latest government projections <a href="https://www.abc.net.au/news/2021-06-23/gov-projects-little-need-for-astrazeneca-after-october-covid19/100239442">released this week</a>.</p> <p><a href="https://www.health.gov.au/sites/default/files/documents/2021/06/covid-19-vaccination-covid-vaccination-allocations-horizons.pdf">From September</a>, up to an average 1.3m doses of the Pfizer vaccine plus another 125,000 doses of the yet-to-be approved Moderna vaccine are expected to be available per week. These figures are set to rise from October, as use of the AstraZeneca vaccine drops.</p> <p>Both the Pfizer and Moderna vaccines are mRNA vaccines, which contain tiny fragments of the genetic material known as “messenger ribonucleic acid”. And if social media is anything to go by, <a href="https://twitter.com/AJ19803/status/1334476726022385666">some people</a> are concerned these vaccines can affect their genetic code.</p> <p>Here’s why the chances of that happening are next to zero and some pointers to how the myth came about.</p> <p><strong>Remind me, how do mRNA vaccines work?</strong></p> <p>The technology used in the Pfizer and Moderna vaccines is a way of giving your cells temporary instructions to make the <a href="https://theconversation.com/revealed-the-protein-spike-that-lets-the-2019-ncov-coronavirus-pierce-and-invade-human-cells-132183">coronavirus spike protein</a>. This protein is found on the surface of SARS-CoV-2, the virus that causes COVID-19. The vaccines teach your immune system to protect you if you ever encounter the virus.</p> <p>The mRNA in the vaccine is taken up by the cells in your body, ending up in the liquid inside each cell known as the cytoplasm. Our cells naturally make <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3941114/">thousands of our own mRNAs</a> all the time (to code for a range of other proteins). So the vaccine mRNA is just another one. Once the vaccine mRNA is in the cytoplasm it’s used to make the SARS-CoV-2 spike protein.</p> <p>The vaccine mRNA is <a href="https://theconversation.com/what-is-mrna-the-messenger-molecule-thats-been-in-every-living-cell-for-billions-of-years-is-the-key-ingredient-in-some-covid-19-vaccines-158511">short-lived</a> and is rapidly broken down after it’s done its job, as happens with all your other mRNA.</p> <p><a rel="noopener" href="https://images.theconversation.com/files/408058/original/file-20210624-13-1w14e5y.jpg?ixlib=rb-1.1.0&amp;q=45&amp;auto=format&amp;w=1000&amp;fit=clip" target="_blank"><img src="https://images.theconversation.com/files/408058/original/file-20210624-13-1w14e5y.jpg?ixlib=rb-1.1.0&amp;q=45&amp;auto=format&amp;w=754&amp;fit=clip" alt="Typical mammalian cell, showing different parts, such as nucleus and cytoplasm" /></a></p> <p><span class="caption">Vaccine mRNA is in the cytoplasm and once it’s done its job, it’s broken down.</span> </p> <p><strong>Here’s why the mRNA can’t insert into your genetic code</strong></p> <p> </p> <p>Your genetic code is made up of a different, but related, molecule to the vaccine mRNA, known as DNA, or deoxyribonucleic acid. And mRNA can’t insert itself into your DNA for two reasons.</p> <p>One, both molecules have a different chemistry. If mRNAs could routinely insert themselves into your DNA at random, this would play havoc with how you produce proteins. It would also scramble your genome, which is passed on to future cells and generations. Life forms that do this would not survive. That’s why life has evolved for this <em>not</em> to happen.</p> <p>The second reason is vaccine mRNA and DNA are in two different parts of the cell. Our DNA stays in the nucleus. But vaccine mRNA goes straight to the cytoplasm, never entering the nucleus. There are no transporter molecules we know of that carry mRNA into the nucleus.</p> <p><strong>But aren’t there some exceptions?</strong></p> <p>There are some extremely rare exceptions. One is where genetic elements, known as <a href="https://www.nature.com/scitable/topicpage/transposons-the-jumping-genes-518/">retro-transposons</a>, hijack cellular mRNA, convert it into DNA and insert that DNA back into your genetic material.</p> <p>This has occurred sporadically <a href="https://www.nature.com/articles/nrg2640">throughout evolution</a>, producing some ancient copies of mRNAs scattered throughout our genome, to form so-called <a href="https://www.nature.com/articles/s41576-019-0196-1">pseudogenes</a>.</p> <p>Some <a href="https://www.genome.gov/genetics-glossary/Retrovirus">retroviruses</a>, such as HIV, also insert their RNA into our DNA, using similar methods to retro-transposons.</p> <p>However, there is a vanishingly small chance of a naturally occurring retro-transposon becoming active in a cell that has just received a mRNA vaccine. There’s also a vanishingly small chance of being infected with HIV at precisely the same time as receiving the mRNA vaccine.</p> <p><a href="https://images.theconversation.com/files/408059/original/file-20210624-29-gcexgw.jpg?ixlib=rb-1.1.0&amp;q=45&amp;auto=format&amp;w=1000&amp;fit=clip"><img src="https://images.theconversation.com/files/408059/original/file-20210624-29-gcexgw.jpg?ixlib=rb-1.1.0&amp;q=45&amp;auto=format&amp;w=754&amp;fit=clip" alt="Blood sample labelled with HIV - Test" /></a></p> <p><span class="caption">There’s a vanishingly small chance of being infected with HIV at precisely the same time as having an mRNA vaccine.</span> </p> <p>Even if a retro-transposon were to become active or a virus such as HIV were present, the chances of it finding the COVID vaccine mRNA, among the tens of thousands of natural mRNAs, is extremely unlikely. That’s because vaccine mRNA is degraded within <a href="https://pubmed.ncbi.nlm.nih.gov/18797453/">several hours</a> of entering the body.</p> <p>Even if vaccine mRNA did become a pseudogene, it would not produce the SARS-CoV-2 virus, but just one of the viral products, the harmless spike protein.</p> <p><strong>How do we actually know this?</strong></p> <p> </p> <p>We know of no studies looking for vaccine mRNA in the DNA of people who have been vaccinated. There is no scientific basis on which to suspect this insertion has happened.</p> <p>However, if these studies were to be carried out, they should be relatively straightforward. That’s because we can now <a href="https://cellandbioscience.biomedcentral.com/articles/10.1186/s13578-019-0314-y">sequence DNA in single cells</a>.</p> <p>But in reality, it will be very hard to ever satisfy a naysayer who is convinced this genome insertion happens; they can always argue scientists need to look deeper, harder, in different people and in different cells. At some point this argument will need to be laid to rest.</p> <p><strong>So how did this myth come about?</strong></p> <p><a href="https://doi.org/10.1073/pnas.2105968118">One study</a> reported evidence for coronavirus RNA integrating into the human genome in cells grown in the lab that had been infected with SARS-CoV-2.</p> <p>However, that paper did not look at the mRNA vaccine, lacked critical controls and <a href="https://www.biorxiv.org/content/10.1101/2021.03.05.434119v1">has</a> <a rel="noopener" href="https://doi.org/10.1128/JVI.00294-21" target="_blank">since been discredited</a>.</p> <p>These types of studies also need to be seen in context of the public’s wariness of genetic technology more broadly. This includes <a rel="noopener" href="https://www.nature.com/articles/nbt1099_941d" target="_blank">the public’s concerns</a> about genetically modified organisms (GMOs), for instance, over the past 20 years or so.</p> <p>But GMOs are different to the mRNA technology used to make COVID vaccines. Unlike GMOs, which are produced by inserting DNA into the genome, vaccine mRNA will not be in our genes or passed to the next generation. It’s broken down very quickly.</p> <p>In reality, mRNA technology has <a href="https://theconversation.com/3-mrna-vaccines-researchers-are-working-on-that-arent-covid-157858">all sorts of</a> <a href="https://www.wired.co.uk/article/mrna-vaccine-revolution-katalin-kariko">applications</a>, beyond vaccines, including biosecurity and sustainable agriculture. So it would be a pity for these efforts to be held back by misinformation.</p> <p> </p> <p><span><a href="https://theconversation.com/profiles/archa-fox-1153308">Archa Fox</a>, Associate Professor and ARC Future Fellow, <em><a href="https://theconversation.com/institutions/the-university-of-western-australia-1067">The University of Western Australia</a></em>; <a href="https://theconversation.com/profiles/jen-martin-17007">Jen Martin</a>, Leader, Science Communication Teaching Program, <em><a href="https://theconversation.com/institutions/the-university-of-melbourne-722">The University of Melbourne</a></em>, and <a href="https://theconversation.com/profiles/traude-beilharz-1240711">Traude Beilharz</a>, Assoc Professor ARC Future Fellow, Biochemistry &amp; Molecular Biology, Monash Biomedicine Discovery Institute, <em><a href="https://theconversation.com/institutions/monash-university-1065">Monash University</a></em></span></p> <p>This article is republished from <a href="https://theconversation.com">The Conversation</a> under a Creative Commons license. Read the <a rel="noopener" href="https://theconversation.com/can-the-pfizer-or-moderna-mrna-vaccines-affect-my-genetic-code-162590" target="_blank">original article</a>.</p>

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Genetic secrets of almost 2,700 cancers unveiled by landmark international project

<p>Scientists have revealed the detailed genetic makeup of thousands of cancer samples, yielding new insights into the genes that drive the many and varied forms of the disease.</p> <p>The results, <a href="https://www.nature.com/collections/pcawg/">published in a landmark collection of research papers in the journal Nature</a> interpret the complete DNA sequences, or cancer genomes, of 2,658 cancer samples. This will further our understanding of the crucial “driver” mutations that underpin cancer development and offer potential as targets for treatments such as chemotherapy.</p> <p>It is the work of some 700 scientists around the world, as part of an international project called the <a href="https://dcc.icgc.org/pcawg">Pan-Cancer Analysis of Whole Genomes</a>.</p> <p>The hallmark of a cancer cell is its unregulated growth. The mechanism that allows these cells to escape normal cellular growth regulation involves the introduction of mutations into the cancer cell’s DNA. The collection of mutations present in a particular cancer genome is thus known as that cancer’s “mutation signature”.</p> <p>Each advance in our capacity to accurately and completely sequence whole cancer genomes, and to analyse the sequence data, has enabled a more in-depth analysis of these mutation signatures. Each step forward has revealed further diversity in the mutation processes that underlie the development and progression of cancer.</p> <p><strong>Diverse mutations</strong></p> <p>It is seven years since the <a href="https://theconversation.com/cancer-signatures-offer-hope-for-treatment-and-prevention-17045">previous landmark advance in this field</a>. Back in 2013, researchers reported on the genetic makeup of 7,042 cancers of 30 different types, and identified 20 distinct mutational signatures.</p> <p>Today’s reports involve fewer cancers, but an increase in the number of cancer types to 38. But this latest advance is not really about numbers.</p> <p>The real step forward is in our understanding of the diversity of DNA mutations and mutation signatures within cancer genomes. This is primarily the result of improved methods for analysing the DNA sequence data, compared with the state of the art in 2013.</p> <p>As a result, important DNA sequence alterations that could not be detected in previous work have now been described. Each contributes important new details about each cancer genome.</p> <p>Until recently, cancer DNA mutation analyses had been focused on small alterations in “coding regions” of DNA - the roughly 1% of DNA that is responsible for making proteins. The new analyses reported today have identified non-coding driver mutations – some of them large structural mutations that can be as big as entire chromosomes.</p> <p>These new analytical capabilities have enabled the identification of 97 mutation signatures, five times more than previously known. The improved detail boosts our understanding of the diversity of cancer genomes. It also provides important new information about the order in which these mutations accumulate during cancer development.</p> <p>However, there is good evidence to suggest that more work is still required to characterise the full spectrum of cancer DNA mutations. It is anticipated that all cancers will have at least one, and perhaps as many as five, driver DNA mutations. Despite the extensive array of analytical approaches described in these new reports, the researchers were still unable to identify any driver mutations in 5% of the cancers in their study.</p> <p>The research has also shown that similar mutation signatures are present in cancers that arise in different tissues. This has implications for cancer treatment. For example, a drug successfully used to treat a breast cancer may be as effective for treating a pancreatic cancer if the two cancers share the same mutation signature.</p> <p>These data will greatly advance our ability to identify cancers with the same or similar origins via their mutation signature. It has enormous implications for diversifying the current suite of drugs available for gene-targeted cancer treatment.</p> <p>But, perhaps more significantly, it also offers the opportunity to expand our strategies for preventing cancer before it starts.</p> <p><em>Written by Melissa Southey. Republished with permission of </em><a href="https://theconversation.com/genetic-secrets-of-almost-2-700-cancers-unveiled-by-landmark-international-project-131197"><em>The Conversation.</em></a></p>

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Genetics reveal that Antarctica was once too cold for penguins

<p>Emperor penguins are truly remarkable birds – they thrive in the coldest environment on Earth and live year-round on the ice. Breeding colonies congregate on sea ice during the Antarctic winter and must withstand temperatures that regularly drop below -30C.</p> <p>In fact, emperor penguins are so adapted to cold conditions that they become heat stressed when temperatures climb above 0C. Emperor penguins are therefore particularly threatened by climate change, and their numbers are expected to <a href="http://www.nature.com/nclimate/journal/v4/n8/full/nclimate2280.html">decline</a> in the coming decades.</p> <p>However a <a href="http://dx.doi.org/10.1111/gcb.12882">new study</a>, published today in Global Change Biology, shows that it was once too cold even for emperor penguins.</p> <p><strong>Penguins past and present</strong></p> <p>In our study of how changing climate has affected emperor penguins over the past 30,000 years we found that, during the last ice age, emperor penguins were roughly seven times less common than today. What’s more, it appears that only three populations survived the last ice age. The Ross Sea was a refuge for one of these populations.</p> <p>In the first continental-scale genetic study of emperor penguins, we examined genetic diversity of penguins modern and ancient to find out how they’re related. We collected genetic samples from eight breeding colonies – no easy feat given that emperor penguins live in some of the remotest places on Earth in conditions that would send most people running for a roaring fire and a hot cup of tea.</p> <p><a href="https://images.theconversation.com/files/72856/original/image-20150224-32209-815vrd.jpg?ixlib=rb-1.1.0&amp;q=45&amp;auto=format&amp;w=1000&amp;fit=clip"><img src="https://images.theconversation.com/files/72856/original/image-20150224-32209-815vrd.jpg?ixlib=rb-1.1.0&amp;q=45&amp;auto=format&amp;w=754&amp;fit=clip" alt="" /></a> <span class="caption">A rookery near Mawson station.</span> <span class="attribution"><span class="source">Chris Wilson/Australian Antarctic Division</span>, <span class="license">Author provided</span></span></p> <p>Reaching the colonies involved weeks on the notoriously wild Southern Ocean (and considerable seasickness), helicopter journeys over pristine expanses of sea ice, and long snow shoe and ski traverses. The “A” (for Antarctic) factor was a constant presence, with delays caused by heavy sea ice that trapped ships for days at a time and blizzards that grounded helicopters.</p> <p>Nevertheless, the effort paid off. Analyses of genetic data allowed us to reconstruct the population history of penguins, and correlate it with environmental conditions inferred from ice core data. The findings indicate that approximately 12,000 years ago, after the ice age ended and temperatures began to rise and sea ice around Antarctica decreased, emperor penguin numbers began to climb.</p> <p><strong>Goldilocks penguins</strong></p> <p>The emperor penguin’s relationship with sea ice can be described as a Goldilocks phenomenon.</p> <p>The penguins need stable sea ice to stand on during their breeding season. If the sea ice extent is too great then the journey between the colony and their feeding grounds in the ocean may prove too costly in terms of energy reserves.</p> <p>If there is too little sea ice or if the sea ice is not stable enough, then the penguins cannot establish successful breeding colonies. The duration of the sea ice season is also important – if the season is too short for the chicks to adequately mature, then they may not have time to grow their adult, waterproof feathers and will not survive at sea.</p> <p>During the last ice age there was about twice as much ice as there is today. Emperor penguins were probably unable to breed in more than a few locations around Antarctica. The distances from the open ocean, where the penguins feed, to the stable sea ice where they breed was probably too great in most of their modern breeding locations.</p> <p>The three populations that did manage to survive the ice age may have done so by breeding near polynyas – areas of ocean that are kept free of sea ice by wind and currents. One of the most important of these polynyas was located in the Ross Sea.</p> <p><strong>Uncertain future</strong></p> <p>Because of this Goldilocks relationship emperor penguins are facing an uncertain future. Antarctic sea ice extent has been measured using satellites for the past 35 years. In this time, large changes with very different trends in different regions have been observed.</p> <p>For the past three years in a row winter sea ice has <a href="https://theconversation.com/new-antarctic-sea-ice-record-but-scientists-arent-confounded-31676">broken records</a> for total maximum extent. This overall increasing trend masks major regional changes in the extent of the sea ice field and the duration of the sea ice season.</p> <p><a href="https://images.theconversation.com/files/72977/original/image-20150224-25670-c2ed8d.jpg?ixlib=rb-1.1.0&amp;q=45&amp;auto=format&amp;w=1000&amp;fit=clip"><img src="https://images.theconversation.com/files/72977/original/image-20150224-25670-c2ed8d.jpg?ixlib=rb-1.1.0&amp;q=45&amp;auto=format&amp;w=237&amp;fit=clip" alt="" /></a> <span class="caption">Emperor penguin colonies are found right around the Antarctic continent.</span> <span class="attribution"><span class="source">Jane Younger</span>, <span class="license">Author provided</span></span></p> <p>In some areas, such as the Bellingshausen Sea, there has been a large decline in sea ice while in others, including the Ross Sea, sea ice is increasing. These fluctuations in sea ice are likely placing a huge <a href="https://theconversation.com/new-behaviour-leaves-antarctic-penguins-on-the-shelf-21849">strain on emperor penguin populations</a>, which is set to continue into the future. As areas suitable for emperor penguin breeding become scarcer it is becoming increasingly important to conserve areas known to support penguin populations.</p> <p>It’s clear that the Ross Sea was a critical area for emperor penguins in the past and this suggests it will provide an important refuge for breeding colonies in the future. This emphasises the need for careful protection of this vital part of the Antarctic ecosystem.</p> <p>A marine protected area, to protect roughly 1.34 million square kilometres of the Ross Sea from commercial fishing, was proposed by New Zealand and the United States at the last meeting of the <a href="https://www.ccamlr.org/">Commission for the Conservation of Antarctic Marine Living Resources</a> in October 2014. The proposal was rejected, but a Ross Sea marine park is likely to be on the agenda again at the 2015 meeting.</p> <p>Emperor penguins are remarkably hardy birds, surviving in one of the harshest environments on earth. However their reliance on a narrow range of suitable habitat highlights their fragility, and raises concern over their future in a world undergoing its most rapid environmental change in history.<!-- Below is The Conversation's page counter tag. Please DO NOT REMOVE. --><img style="border: none !important; box-shadow: none !important; margin: 0 !important; max-height: 1px !important; max-width: 1px !important; min-height: 1px !important; min-width: 1px !important; opacity: 0 !important; outline: none !important; padding: 0 !important; text-shadow: none !important;" src="https://counter.theconversation.com/content/37800/count.gif?distributor=republish-lightbox-basic" alt="The Conversation" width="1" height="1" /><!-- End of code. If you don't see any code above, please get new code from the Advanced tab after you click the republish button. The page counter does not collect any personal data. More info: http://theconversation.com/republishing-guidelines --></p> <p><span><a href="https://theconversation.com/profiles/jane-younger-155783"><em>Jane Younger</em></a><em>, PhD Candidate, Institute for Marine and Antarctic Studies, <a href="http://theconversation.com/institutions/university-of-tasmania-888">University of Tasmania</a> and <a href="https://theconversation.com/profiles/karen-miller-156382">Karen Miller</a>, Adjunct Senior Lecturer, <a href="http://theconversation.com/institutions/university-of-tasmania-888">University of Tasmania</a></em></span></p> <p><em>This article is republished from <a href="http://theconversation.com">The Conversation</a> under a Creative Commons license. Read the <a href="https://theconversation.com/genetics-reveal-antarctica-was-once-too-cold-for-penguins-37800">original article</a>.</em></p>

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The most common genetic kidney disorder you've probably never heard of

<p>Autosomal-dominant polycystic kidney disease (<a href="https://pkdaustralia.org/adpkd/">ADPKD</a>) is the most common genetic kidney disorder, and the <a href="https://www.anzdata.org.au/report/anzdata-41st-annual-report-2018-anzdata/">fourth most common</a> cause of kidney failure in Australian adults. It affects about <a href="https://onlinelibrary.wiley.com/doi/full/10.1111/imj.13143">one in 1,000 Australians</a>.</p> <p>In people with ADPKD, a mutation in one or two genes leads to the development and progressive growth of cysts in the kidneys, causing a decline in kidney function.</p> <p>Labor senator Malarndirri McCarthy, a Yanyuwa woman, recently spoke publicly about having ADPKD after <a href="https://www.smh.com.au/politics/federal/senator-reveals-kidney-disease-that-saw-her-leave-question-time-for-hospital-20190802-p52d8w.html">she became unwell</a> with a kidney infection and had to leave the Senate.</p> <p>But a newly available treatment for ADPKD shows promise for people with the disease.<a href="http://theconversation.com/explainer-what-is-chronic-kidney-disease-and-why-are-one-in-three-at-risk-of-this-silent-killer-81942"></a></p> <p><strong>What is ADPKD?</strong></p> <p>If one parent has ADPKD, the children have a 50 per cent chance of inheriting the gene (though <a href="https://onlinelibrary.wiley.com/doi/full/10.1111/imj.13143">up to 10 per cent</a> of patients don’t have a family history).</p> <p>Where it is inherited, the age of diagnosis and rate of progression to kidney failure in the parent gives some indication of how the disease will develop in affected children.</p> <p>The cysts are like balloons filled with water, which start small in childhood and increase in size over time.</p> <p>Typically, the cysts don’t start to cause problems until later in life. The average age at diagnosis is <a href="https://www.nejm.org/doi/full/10.1056/NEJMoa1402685">27 years</a>.</p> <p>As the cysts grow, normal working tissue in the kidney is replaced with enlarging cysts. So with time, the kidneys don’t work as well.</p> <p>For about <a href="https://onlinelibrary.wiley.com/doi/full/10.1111/imj.13143">half of people with ADPKD</a>, their condition will eventually progress to kidney failure, which may be treated with dialysis or a transplant.</p> <p>While the loss of kidney function is paramount, the cysts may cause other symptoms and complications too.</p> <p>Symptoms can include high blood pressure and chronic pain or heaviness in the back, sides and abdomen. The growth of cysts means the kidneys can grow to as large as <a href="https://onlinelibrary.wiley.com/doi/full/10.1111/j.1464-410X.2007.07229.x">5-6kg in size</a>.</p> <p>Blood in the urine, urinary tract infections, kidney stones and infections in the cysts are not uncommon in people with ADKPD, and can all impact quality of life.</p> <p>Other organs may also be affected. People with ADPKD can develop cysts in the liver, pancreas and bowel, and about 10 per cent will experience balloon dilations of the <a href="https://www.ncbi.nlm.nih.gov/pubmed/26260542">blood vessels in the brain</a>, called aneurysms.</p> <p><strong>Treatment</strong></p> <p>Until recently, treatment of ADPKD was directed towards early detection, control of blood pressure, lifestyle measures such as quitting smoking, weight control and diet, antibiotics for infections, analgesics for pain and the management of progressive kidney dysfunction via dialysis and transplantation. None of these therapies however directly slowed the growth of cysts.</p> <p>But on January 1, 2019, tolvaptan <a href="https://pkdaustralia.org/news/">was listed</a> on the Pharmaceutical Benefits Scheme. Australia now joins the United States, the European Union, and several other countries where this drug was already available.</p> <p>Tolvaptan, which is taken in tablet form, slows the growth of cysts by <a href="https://www.ncbi.nlm.nih.gov/pubmed/28379536">blocking a hormone called vasopressin</a>. Vasopressin is critical in triggering the formation of cysts. In this way, tolvaptan prolongs the time to kidney failure.</p> <p>In one study, three years of treatment with tolvaptan <a href="https://www.nejm.org/doi/full/10.1056/NEJMoa1205511">reduced the rate of cyst growth</a> by around 50 per cent in comparison to a placebo treatment. The authors suggested tolvaptan may delay dialysis or the need for a transplant for six to nine years for patients with ADPKD, particularly if started early.</p> <p>People who took tolvaptan in this study also had lower incidence of ADPKD-related complications including urinary tract infections and kidney pain.</p> <p><strong>Kidney disease and Indigenous Australians</strong></p> <p>ADPKD is not actually more common in Aboriginal and Torres Strait Islander communities, as other causes of <a href="https://www.menzies.edu.au/page/Research/Indigenous_Health/Diabetes_and_kidney_disease/Kidney/">chronic kidney disease</a> are. This may be because ADPKD is inherited.</p> <p>The majority of chronic kidney disease develops as a complication of diabetes, which affects Aboriginal and Torres Strait Islander populations more commonly and typically <a href="https://www.menzies.edu.au/page/Research/Indigenous_Health/Diabetes_and_kidney_disease/Diabetes/">at a younger age</a> than the overall Australian population.</p> <p>Kidney disease, whatever the cause, remains a significant issue for Aboriginal and Torres Strait Islander communities. People in remote Indigenous communities in particular face challenges around accessing treatments in large urban centres, and have poorer access to organ transplants.</p> <p>There are several nationally targeted activities and proposals aimed at reducing the burden of chronic kidney disease in Indigenous Australians.</p> <p>The <a href="https://www.menzies.edu.au/icms_docs/281923_Roundtable_Towards_Roadmap_For_Renal_Health_-_Media_Release.pdf">Renal Health RoadMap</a> is designed to support health systems in early detection and management of diabetes and chronic kidney disease. It also seeks to address the social determinants of poor health in Indigenous communities, including housing quality and availability, and health infrastructure.</p> <p>In 2018, Minister for Indigenous Australians Ken Wyatt commissioned <a href="https://www.tsanz.com.au/TSANZ%20Performance%20Report%20-%20Improving%20Indigenous%20Transplant%20Outcomes%20(Final%20edited)-1.pdf">a report</a> detailing how access to and outcomes of kidney transplants could be improved among Indigenous Australians. He also established a <a href="https://www.anzdata.org.au/anzdata/for-information-2/tsanz/">National Indigenous Kidney Transplantation Taskforce</a> to implement the recommendations from this report.</p> <p>Some key recommendations include improving the communication between health-care teams, patients and their families, addressing cultural bias in the delivery of health care, and improving the quality of data around transplant access and outcomes.</p> <p>Addressing transplant and treatment inequities will benefit Indigenous Australians with kidney failure sustained from ADPKD and chronic kidney disease more broadly.</p> <p><em>Written by <span>Karen Dwyer, Deputy Head, School of Medicine, Deakin University and Jaquelyne Hughes, Senior Research Fellow, Menzies School of Health Research</span>. Republished with permission of </em><a rel="noopener" href="https://theconversation.com/polycystic-kidney-disease-the-most-common-genetic-kidney-disorder-youve-probably-never-heard-of-121441" target="_blank"><em>The Conversation</em></a><em>. </em></p>

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Is our wellbeing genetic?

<p>The question of nature versus nurture – whether genetics or our environment plays the biggest role in determining our personality – has been a hotly debated topic in scientific circles for decades. Now, some fascinating research is being carried out in Australia to determine the role of our genes and the environment in how resilient we are to life’s difficulties.</p> <p>We spoke to Dr Justine Gatt, Group Leader and Senior Research Scientist at <span><a href="https://www.neura.edu.au/">Neuroscience Research Australia (NeuRA)</a></span> and <span><a href="http://www.psy.unsw.edu.au/contacts-people/research-staff/dr-justine-gatt">School of Psychology at UNSW</a></span>, about the findings from her research into the genetics of wellbeing, and whether or not it is possible to become more resilient and experience a greater sense of wellbeing as we age.</p> <p><strong>What is resilience?</strong><br />Resilience is often defined as someone’s ability to survive trauma – such as a job loss, death of a loved one, illness, natural disaster or financial difficulties – without developing a mental health problem.</p> <p>In scientific terms, resilience can be better explained as the process of being able to adapt positively after a traumatic experience, says Gatt. “It’s more [about] the steps that you take to deal with that particular stressor so that you’re functioning well,” she says.</p> <p>Some factors associated with resilience include:</p> <ul> <li>Having a positive outlook on life and satisfaction with your achievements</li> <li>Having the capacity to manage feelings and impulses</li> <li>Having a positive view of yourself and your abilities</li> </ul> <p>Unlocking the secrets of resilience will lead to ways to help develop this process in others, says Gatt. “A lot of psychiatric research focuses on how to predict and prevent mental illness. There’s a lot less focus on how people are flourishing,” she says. “Wellbeing is not just the absence of mental health symptoms – it’s a completely different state of being – so it’s important to understand it in its own right,” she says.</p> <p><strong>The TWIN-E study</strong><br />To unravel the underlying mechanisms of wellbeing and resilience, Dr Gatt and her colleagues are studying a group of 1600 healthy adult twin volunteers over time.</p> <p>The <span><a href="https://www.neura.edu.au/project/heritability-emotion-cognition-twins/">TWIN-E Emotional Wellbeing study</a></span> began in 2009 with the aim of identifying key risk factors for emotional vulnerability and resilience in the twins, including the role their genes and environments play in their vulnerability or resilience to trauma.</p> <p>In the first part of the study, identical and non-identical twin volunteers from the <span><a href="https://www.twins.org.au/">Australian Twin Registry</a></span> completed computer questionnaires as well as cognitive tests. They also provided saliva samples for the researchers to study their genes.</p> <p>Brain imaging was also carried out on some of the twins to help the scientists determine if different brain networks influenced their wellbeing and resilience.</p> <p><strong>What the researchers found</strong></p> <p>From this study, Dr Gatt and her team were able to develop a 26-item questionnaire called the <span><a href="https://www.ncbi.nlm.nih.gov/pubmed/24863866">COMPAS-W scale</a></span> to measure wellbeing.</p> <p>They used this scale to study how different genes contribute to wellbeing in their twin sample. “What we found was that genes account for 48 per cent of our wellbeing. That means almost half of our wellbeing is determined by our genes. Our environment accounts for the other half,” says Gatt.</p> <p>In the next phase of research, Gatt and her colleagues will perform a 10-year follow-up study on the twins to see how their brains have changed over time and to determine how these changes are associated with levels of resilience.</p> <p>The researchers also plan to study the role the twin’s genes have played in their resilience to trauma.</p> <p><strong>What the findings mean</strong></p> <p>If you don’t like the idea that your wellbeing might be determined by a gene variant that you may or may not have, there’s no need for alarm. The underlying genetics of wellbeing and resilience could be far more complex than previously thought.</p> <p>“It’s likely a large number of genes have very small effects on wellbeing and resilience,” says Gatt. “The other thing is that these genes might not necessarily predispose you to be more or less protected from trauma. They might just influence how malleable you are to your life experiences – whether or not you are more or less sensitive to the impacts of positive and negative environments,” she explains.</p> <p>Even if you do assume that approximately 50 per cent of your wellbeing is determined by your genes, there’s still a lot you can do on the environmental side, says Gatt. She has developed <span><a href="https://drive.google.com/file/d/0B8AF7u-ZqkfwSXdXN2pSdmRIcjQ/view">six key resilience tips</a></span> that are likely to form the basis of e-health tools to help people to become more resilient.</p> <ol> <li>Learn to deal with stress in a positive manner.</li> <li>Own worth. Develop your sense of self-worth. Hold firm to your values and boundaries.</li> <li>Build your self-confidence. Understand your strengths and your weaknesses.</li> <li>Have a positive outlook. Include fun activities in your life.</li> <li>Set meaningful goals. These should support your interests and talents.</li> <li>Satisfaction with life. Maintain your physical health, practise mindfulness and gratitude.</li> </ol> <p>How resilient do you think you are?</p> <p><em>Written by Dominic Bayley. Republished with permission of <span><a href="https://www.wyza.com.au/articles/health/wellbeing/is-our-wellbeing-genetic.aspx">Wyza.com.au.</a></span></em></p>

Caring

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Deepak Chopra on genetic health and 6 pillars of wellbeing

<p>How are you feeling today? For many of us, being able to answer “pretty good” seems like a personal victory. But Deepak Chopra - the spiritual guru with the bejewelled spectacles who counts Oprah Winfrey as a bestie - says we need to raise our expectations. The aim? To leap into “radical wellbeing”. So, what does that mean exactly?</p> <p>“Radical wellbeing is beyond just good health,” says Chopra, speaking from his office in California. “It’s a state where you’re constantly experiencing a joyful, energetic body; a loving, compassionate heart; a restful, alert, reflective mind; and then, most importantly, lightness of being, carefreeness and joy. Those qualities result in a great body and mind expression, automatically.”</p> <p>Our phone call is scheduled for five o’clock on a Friday evening - a time of the week when many people feel exhausted. Is it really possible to live with all of these qualities when we are overstretched, overworked and at the end of our tether? “I can only say that has been my life,” says Chopra.</p> <p>“I know a lot of people who have the same experience of life, too. So, yes, it is possible.”</p> <p>Deepak Chopra, who has been dubbed the “prophet of alternative medicine”, is a physician who trained in neuroendocrinology - the study of brain chemistry. He has devoted his career to exploring the link between mental and physical wellbeing. He taught Elizabeth Taylor how to meditate, has holidayed with Oprah Winfrey in India and, according to Lady Gaga, helped her to “embrace my own insanity”.</p> <p>This month the author of more than 80 self-help books will visit Australia to host a two-day conference in Melbourne on the Neuroscience of Enlightenment and the lifestyle choices that can, he says, radically boost wellbeing and even reverse genetic ageing. His latest book, <em>Super Genes</em>, examines the “epigenetics of meditation and self-directed biological transformation” - basically, how certain healthy habits can influence our DNA and reduce the risk of diseases such as cancer and Alzheimer’s.</p> <p>Chopra is a good advertisement for his own product. This year he will celebrate his 70th birthday. “Which is shocking,” he says, “because my biological age is probably 35.” He puts his inner youthfulness down to “good, peaceful sleep every night; a little bit of meditation every day; healthy emotions like love, compassion, joy and peace of mind; movement - at least 10,000 steps; and, finally, good nutrition.”</p> <p>The pensioner - if you are to go by his chronological age - gets up at 5am every day to meditate and then does a yoga class. He follows an ayurvedic diet and used to be a “heavy meat eater” but now prefers a vegetarian diet with a little seafood. He believes that “the biggest enemy in people’s diet is inflammation”, and so advocates foods that fight inflammation such as berries, tomatoes, ginger and turmeric.</p> <p>Although Chopra’s sentences are populated with New Age jargon such as “inner being” and “deeper consciousness”, he backs his beliefs with medical research undertaken by the Chopra Foundation, a centre where “science and soul co-exist” and which funds trials into alternative therapies.</p> <p><img width="498" height="245" src="https://oversixtydev.blob.core.windows.net/media/27915/image__498x245.jpg" alt="deepak" style="display: block; margin-left: auto; margin-right: auto;"/></p> <p>Unlike the common stereotype of New Age thinkers shying away from technology, he is never far from his smartphone and always travels with his Dream Weaver, a light and sound machine that he claims eases the wearer into a meditative state. On Facebook, where Chopra has more than two million followers, you can take a virtual reality tour of his office. He even has his own Xbox game in which the player has to navigate through various energy chakras.</p> <p>“Technology is neutral and you can either be its master or its slave,” says Chopra. “I would say, set aside time every day for technology, just like you should set aside time every day for relationships, mindful eating and sleep.”</p> <p>His latest project is a wellbeing app called Jiyo. It features how-to articles about self-growth but is also a social platform. You can follow “people like you” and post “insights” you experience on your wellness journey. This isn’t about posting gym selfies - although they’re sure to feature. He believes people should be more open about their emotional coping mechanisms, whether it’s how they’ve overcome insomnia or learnt to meditate without drifting towards thoughts about their shopping lists.</p> <p>“It’s good [for friends] to meet once in a while to talk about these things,” he says. “Or you can do it now by creating your own [online] social network.”</p> <p>Chopra is a proud father and grandfather. He recommends that women read a memoir written by his daughter, Mallika Chopra. <em>Living with Intent</em> chronicles her attempts to find spiritual contentment as an overwhelmed mother. He has also co-authored a book with his son, Gotham, about the circumstances that “pushed us together in adulthood”.</p> <p>Does he have any advice for parents who want to raise happy, healthy children? “Before the age of five, or even 10, children follow your example,” says Chopra. “Children will not listen to what you say but will watch what you do. It’s a phenomenon called mirror neurone. We learn by imitation.”</p> <p>Let’s be realistic. Trying to improve fitness, nutrition, sleep and emotional wellbeing all at once might be over-stretching it. So, which healthy habit would he prioritise? “Take a few minutes every now and again during the day,” he says. “Just do something really simple: observe your breathing. It’s a good place to start for those with very little time.”</p> <p>As we finish, I wish him a good evening, not doubting that he’ll have one. Does Chopra ever have a bad day? “I don’t ever feel stressed,” he says which is partly due to a special night-time ritual.</p> <p>“Every night I sit in bed and I review the day like I’m watching it on a video screen and I’m the main character,” he says. “I do that for about three minutes and then I say, ‘today is already a dream’ and I let it go. I don’t hold on to anything, ever. That means I’m always emotionally free.”</p> <p><strong>The six pillars of wellbeing</strong></p> <p>Deepak Chopra’s latest book, <em>Super Genes</em>, tells how lifestyle shifts can help you reboot your health at a genetic level.</p> <p><strong>Diet</strong></p> <ul> <li>A typical modern diet is very likely to cause inflammation, which research has linked to many chronic diseases and obesity.</li> <li>To reduce inflammation, add prebiotics - substances that buffer the body from inflammation - such as oatmeal, pulpy orange juice, bran cereal and bananas to your breakfast.</li> <li>Consume probiotics - foods that contain active bacteria - once a day for gut health. These foods include active yoghurt, pickles and sauerkraut.</li> <li>Eat mindfully - eat only when you’re genuinely hungry and stop when you are full.</li> <li>Reduce snacking by eating only one measured portion in a bowl; never eat straight from a bag or packet.</li> </ul> <p><strong>Stress</strong></p> <ul> <li>Three factors generally lie behind the problem of chronic stress: repetition, unpredictability and a lack of control. Think of a dog barking outside your window; you don’t know when it will end and you have no way of stopping it.</li> <li>Decrease background noise and distractions at work. Also, avoid multitasking by dealing with one thing at a time.</li> <li>Leave work on time at least three times a week and don’t bring work home. Leave the office at the office.</li> <li>Avoid people who are sources of pressure and conflict. Even normal office behaviour, such as forming cliques and gossiping, is a source of stress that has the potential to be emotionally devastating.</li> <li>If you struggle to deal with negative emotions, ask your doctor about cognitive behaviour therapy.</li> </ul> <p><strong>Exercise</strong></p> <ul> <li>The secret to exercise is this: keep going and don’t stop. It’s better to be active all your life at a lower level, rather than to be at a near professional-level in high school, say, and then stop completely.</li> <li>At work get up and move around once an hour and devote half your lunch break to movement, even if it’s walking around the block.</li> <li>Be in nature more: go outside for five to 10 minutes three times a day.</li> <li>Acquire more active friends and join them in their activities. Plan a shared exercise activity with your spouse or friends twice a week.</li> <li>Make leisure time more creative – think beyond TV or internet.</li> <li>Volunteer to help the needy with housecleaning, painting and repairs. This will serve as both exercise and a morale boost.</li> </ul> <p><strong>Meditation</strong></p> <ul> <li>Meditate every day for 10 minutes.</li> <li>Sit with your eyes closed in a quiet place, put your attention on the tip of your nose and focus on the sensation of your breath coming in and out of your nostrils.</li> <li>Don’t look at meditation as an aid for the bad days you experience (“I’m feeling good today, so I don’t need to meditate”). It should be a lifelong practice.</li> <li>Take 10 minutes out of your lunch break to sit alone with eyes closed, preferably outside in nature.</li> <li>Notice what a relief it is to take big deep breaths when you are upset or nervous, and how ragged your breath becomes when you are anxious or stressed.</li> <li>Join an organised meditation course in your area. Search for meetup.com to find local groups that meet all around the country.</li> </ul> <p><strong>Sleep</strong></p> <ul> <li>Make your bedroom as dark as possible. If total darkness is impossible, wear a sleep mask.</li> <li>Drink a glass of warm almond milk, which is rich in calcium and promotes melatonin, a hormone that helps to regulate the sleep-wake cycle.</li> <li>Experiment with herbal teas associated with good sleep such as chamomile, valerian, passionflower, lavender and kava kava.</li> <li>Explore abhyanga, a self-massage technique that uses warmed sesame oil, lightly massaged into arms, legs, neck and torso (go to YouTube to see tutorials).</li> <li>Don’t ignore insomnia. In some studies, sleep disorders have been associated with triggering Alzheimer’s disease and are also associated with high blood pressure.</li> </ul> <p><strong>Emotions</strong></p> <ul> <li>Take responsibility for your feelings. Wellbeing depends upon happiness, yet most people don’t really make that connection.</li> <li>Write down five specific things that make you happy and, on a daily basis, do at least one of them.</li> <li>Set a “good news policy” at meal times, whether it’s the radio station you choose to listen to or the topic of conversation around the table.</li> <li>Explore a time in your past when you were happy and learn from it, whether that means re-embracing an old hobby or getting in touch with an old friend.</li> <li>Become comfortable with delayed gratification – consider how your choices will make you feel in the future as well as today.</li> </ul> <p><em>Written by Amy Molloy. First appeared on <a href="http://Stuff.co.nz" target="_blank"><strong><span style="text-decoration: underline;">Stuff.co.nz</span></strong></a>.</em></p> <p><strong>Related links:</strong></p> <p><a href="/health/mind/2016/08/how-to-live-a-more-simple-life/"><strong><em><span style="text-decoration: underline;">How to live a more simple life</span></em></strong></a></p> <p><a href="/health/mind/2016/08/how-to-build-self-discipline-in-10-days/"><span style="text-decoration: underline;"><em><strong>How to build self-discipline in 10 days</strong></em></span></a></p> <p><a href="/health/mind/2016/08/why-you-should-stay-silent-more/"><em><strong><span style="text-decoration: underline;">4 reasons to keep silent more often</span></strong></em></a></p>

Mind

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Powerful photo series of children with rare genetic diseases

<p>Photographer Karen Haberberg never met her brother, Rafi. Before she was even born, he had died of the rare genetic disorder Tay-Sachs disease, which slowly attacks the nervous system. Now a mother herself, she decided to use her talents to help raise awareness of the sweet children affected by these tragic inherited conditions with a new book called <a href="https://www.kickstarter.com/projects/1003638945/kids-with-rare-genetic-conditions-a-photo-book" target="_blank"><em><strong><span style="text-decoration: underline;">Kids with Rare Genetic Conditions</span></strong></em></a>.</p> <p>“The chronic illness of a child requires a commitment that is with the family every moment of every day,” Haberberg writes on the project’s <a href="https://www.kickstarter.com/projects/1003638945/kids-with-rare-genetic-conditions-a-photo-book" target="_blank"><strong><span style="text-decoration: underline;">Kickstarter page</span></strong></a>. “It steals precious time as families battle insurance companies, search for solace, and struggle to manage everyday tasks. But coping with such an illness can also provide moments of profound dignity, grace, transcendence, and joy.</p> <p>“This project will provide a record of such moments, illuminating what it means to be a family, as well as what it means to be human, no matter how compromised your existence or how brief your time on earth.”</p> <p>Take a look at some of the very first images in the series in the gallery above. We think you’ll agree, they’re extremely powerful.</p> <p><strong>Related links:</strong></p> <p><a href="/lifestyle/family-pets/2016/08/why-grandchildren-need-grandparents/"><strong><em><span style="text-decoration: underline;">4 reasons grandchildren need their grandparents</span></em></strong></a></p> <p><a href="/lifestyle/family-pets/2016/07/how-to-help-your-grandchild-love-learning/"><strong><em><span style="text-decoration: underline;">How to help your grandchild love learning</span></em></strong></a></p> <p><a href="/lifestyle/family-pets/2016/07/parents-beliefs-about-failure-are-crucial-for-kids/"><strong><em><span style="text-decoration: underline;">Parents’ beliefs about failure are crucial for kids</span></em></strong></a></p>

Family & Pets

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How genetics determine our sleeping patterns

<p>Have you ever wondered why some of your friends seem to function on four hours sleep, whereas you always feel tired if you get any less than 10? Or why certain just seem perpetually sluggish, no matter how much sleep they seem to get?</p> <p>Well, it turns out genetics might be a huge determining factor.</p> <p>Recent research has suggested that while a number of factors (like sunlight) play into our sleeping patterns, we also possess ‘clock genes’ that play a huge role in determining our individual circadian rhythm and how much sleep we need to function effectively.</p> <p>Dr Dev Banerjee from Integrated Sleep Health told <a href="http://www.huffingtonpost.com.au/" target="_blank"><span style="text-decoration: underline;"><strong>The Huffington Post</strong></span></a>, “Naturally, in simple terms, when it's dark, we tend to be intrinsically sleepy. When the sun is out we're more awake. We have something called sleep clock genes which determine your circadian rhythm. Your circadian rhythm typically runs on a cycle of 24 hours, though it's possible to have genes where the clock runs a little bit slower, and isn't quite 24 hours on the mark. These people tend to be night owls. Those whose clock is spot-on on time tend to be more of an early bird.”</p> <p>So the next time you get called out for sleeping in, use genetics as your excuse!</p> <p>Are you a night owl, or an early bird? Have you always been this way, or is this something that’s evolved over time? Let us know in the comments! </p> <p><strong>Related links:</strong></p> <p><span style="text-decoration: underline;"><em><a href="/lifestyle/home-garden/2016/07/why-you-should-never-make-your-bed/"><strong>Why you should never make your bed</strong></a></em></span></p> <p><span style="text-decoration: underline;"><em><a href="/health/mind/2016/07/how-to-time-the-perfect-nap/"><strong>How to time the perfect nap</strong></a></em></span></p> <p><span style="text-decoration: underline;"><em><a href="/health/body/2016/07/10-science-backed-ways-to-help-you-sleep/"><strong>10 science-backed ways to help you sleep</strong></a></em></span></p>

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