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Showing posts with the label genetics

She was the world’s oldest person, living to 117. What do her genes reveal about the secret of longevity?

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Originally published in edition.cnn.com b y Issy Ronald, on September 26, 2.025 Maria Branyas Morera lived to be 117 years old. Courtesy Manel Esteller) When a supercentenarian , someone who is older than 110 years old, is interviewed, they are inevitably asked to share their tips for longevity . But what if their secret could be studied scientifically? What could their genome tell us about ageing and why they avoid the diseases that claim so many other people? If any secrets were uncovered, might they, perhaps, help others to live as long, too? Questions like these are at the heart of a recent paper, published Wednesday in the journal Cell Reports Medicine , which investigated the genome of Maria Branyas Morera , a US-born Spanish woman who died in August 2024 at age 117 years and 168 days, shortly after becoming the world’s oldest living person. Read more  

The Genetic Variants Behind "Early Bird" Sleep Patterns

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Identifying the mutations that underly unusual sleep traits can provide insights into the biology of sleep and circadian function in humans . Originally written by Sneha Khedkar, for The Sclientist, on Aug 25, 2025 |   Girl awakening at bed in morning. Child wake up early to go to school. Stretching and yawning. Healthy sleeping.   In the 1990s, a woman approached sleep neurologist Christopher Jones at the University of Utah with an unusual complaint. She would fall asleep very early in the evening and wake up for the day at 2AM . Her odd sleep schedule was preventing her from spending quality time with her loved ones. When she told Jones that some other members of her family experienced a similar sleep pattern , he suspected a genetic cause. Hoping to get some answers, he reached out to Louis Ptáček , a human neurogeneticist at the University of Utah . They suspected that the woman suffered from advanced sleep-phase syndrome : a condition where people find it difficul...

The Secret to Hibernation Is Hidden in Human DNA and We Might One Day Activate It

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Hibernating animals reverse aging, avoid diabetes, and preserve muscle. Could we one day do the same? Originally published By Jenny Lehmann , at discovermagazine.com, on Aug 1, 2025   Hibernation might sound like an extreme way of life : Animals gain a lot of weight quickly, then drastically slow their metabolism to survive off stored energy through long, cold months. But for all its intensity, hibernation is surprisingly healthy , so much so that researchers are now exploring whether humans carry dormant versions of the same genetic switches that allow bears, ground squirrels, and other hibernators to cycle through extreme physiological changes without damaging their health . In two companion studies published in Science , a research team from University of Utah Health uncovered molecular pathways that could help make humans more like hibernators — at least in the ways that matter most for health and disease prevention . Read more  

Researchers capture never-before-seen view of gene transcription

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Originally written by Katherine Fenz, Rockefeller University on July 3, 2024   One of the first-ever images of the open complex that forms when RNAP encounters DNA and kicks off the process of transcription. Credit: Rockefeller University E very living cell transcribes DNA into RNA . This process begins when an enzyme called RNA polymerase (RNAP) clamps onto DNA . Within a few hundred milliseconds, the DNA double helix unwinds to form a node known as the transcription bubble , so that one exposed DNA strand can be copied into a complementary RNA strand . How RNAP accomplishes this feat is largely unknown. A snapshot of RNAP in the act of opening that bubble would provide a wealth of information, but the process happens too quickly for current technology to easily capture visualizations of these structures. Now, a new study published in Nature Structural & Molecular Biology describes E. coli RNAP in the act of opening the transcription bubble . The findings , ...