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Diseases and Conditions

The Haenyeo Divers: Unveiling the Genetic Secrets Behind Korea’s Female Free-Diving Legends

The Haenyeo, a group of all-female divers from the Korean island of Jeju, are renowned for their ability to dive in frigid waters without the aid of breathing equipment — even while pregnant. A study shows that the divers’ remarkable abilities are due to both training and genetic adaptation, including gene variants associated with cold tolerance and decreased blood pressure. The divers also showed pronounced bradycardia, or slowing of the heart rate, when they dived, but this trait is likely due to a lifetime of training, not genetics.

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The Haenyeo divers, renowned for their ability to dive in frigid waters without breathing equipment, have long been a source of fascination. A recent study published in Cell Reports has shed light on the genetic adaptations that enable these women to perform such remarkable feats. The research reveals that both training and genetics play a crucial role in the Haenyeo’s incredible abilities.

Geneticist Melissa Ilardo from the University of Utah notes, “The Haenyeo are amazing, and their incredible ability is written in their genes.” This finding has significant implications for understanding human adaptation and potential therapeutic applications. The researchers studied 30 Haenyeo divers and compared them to 30 non-Haenyeo individuals from Jeju Island and 31 people from mainland Korea.

The team discovered two gene variants associated with cold tolerance and decreased diastolic blood pressure in the Haenyeo. These adaptations may help mitigate the complications of diving through pregnancy, which is a unique aspect of these women’s diving experiences. The researchers also found that the Haenyeo’s heart rate drops significantly more than other groups during simulated dives.

“This association may reflect natural selection to mitigate the complications of diastolic hypertension experienced by female divers while diving through pregnancy,” says Ilardo. This finding has sparked interest in studying traditional diving populations for a deeper understanding of human genetic and physiological adaptation.

The research highlights the potential for these findings to inspire therapeutic developments, such as treatments for hypertensive disorders of pregnancy and stroke. The Haenyeo divers’ remarkable abilities serve as a testament to the importance of community, training, and genetics in achieving exceptional feats.

Animals

The Lemur Secret to Aging without Inflammation: A Breakthrough for Human Health?

What if humans didn’t have to suffer the slow-burning fire of chronic inflammation as we age? A surprising study on two types of lemurs found no evidence of “inflammaging,” a phenomenon long assumed to be universal among primates. These findings suggest that age-related inflammation isn’t inevitable and that environmental factors could play a far bigger role than we thought. By peering into the biology of our primate cousins, researchers are opening up new possibilities for preventing aging-related diseases in humans.

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The study of lemurs has long fascinated scientists, and a recent research breakthrough by biological anthropologist Elaine Guevara is shedding new light on the primate’s remarkable ability to age without inflammation. This phenomenon, known as “inflammaging,” is a widespread issue in humans, leading to health problems such as heart disease, strokes, diabetes, cancer, and osteoarthritis.

Guevara’s research focused on ring-tailed and sifaka lemurs, two species that differ in their life pacing and lifespan. By studying these primates, Guevara aimed to understand why they avoid the inevitability of inflammaging observed in humans. Her findings were surprising: neither species showed age-related changes in markers of oxidative stress or inflammation. In fact, ring-tailed lemurs even exhibited marginal declines in inflammation with age.

This discovery, consistent with recent studies on other non-human primates, suggests that inflamaging is not a universal feature of primates, and perhaps not even a universal feature of humans. Christine Drea, a professor of evolutionary anthropology who worked alongside Guevara, notes that this study points to differences in aging between humans and lemurs.

As we grow older, low-grade chronic inflammation sets in, causing a range of health problems. Understanding why inflamaging increases with age in humans, what causes it, and how it can be prevented is critical information for unlocking ways to help humans live longer and healthier lives. Guevara’s study serves as the first step in unraveling these questions.

The next step for Guevara and her team is to conduct similar research on lemurs in their natural habitat. This will provide valuable insights into how aging can differ between captivity and the wild, and whether inflamaging is intrinsic or environmental.

With a rapidly aging global population, these findings are essential for mitigating disability and improving quality of life in later years. Guevara’s breakthrough study offers new hope that we may be able to learn from lemurs’ remarkable ability to age without inflammation, leading to better health outcomes for humans worldwide.

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Diet and Weight Loss

Rewiring the Brain: Scientists Develop Technique to Deliver Creatine Directly to the Brain

Creatine isn’t just for gym buffs; Virginia Tech scientists are using focused ultrasound to sneak this vital energy molecule past the blood-brain barrier, hoping to reverse devastating creatine transporter deficiencies. By momentarily opening microscopic gateways, they aim to revive brain growth and function without damaging healthy tissue—an approach that could fast-track from lab benches to lifesaving treatments.

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Creatine is well-known for its role in building muscle mass, but it also plays a crucial part in energy production in cells throughout the body – including those in the brain. A research team at Virginia Tech’s Fralin Biomedical Research Institute is working on a groundbreaking technique to deliver creatine directly to the brain using focused ultrasound. This innovative approach has the potential to revolutionize the treatment of creatine deficiency disorders.

Creatine is essential for energy production in cells, and it also influences neurotransmitter systems in the brain. It interacts with phosphoric acid to create adenosine triphosphate, a molecule vital for energy production in living cells. However, a growing body of research suggests that creatine may itself function as a neurotransmitter, delivering signals between neurons.

The brain’s protective blood-brain barrier can prevent beneficial compounds like creatine from reaching the brain when levels are low. This selective shield blocks harmful substances like toxins and pathogens, but it also hinders the delivery of essential nutrients to brain tissue. The research team is using focused ultrasound to temporarily open access to the brain, allowing drugs to reach diseased tissue without harming surrounding healthy cells.

The Focused Ultrasound Foundation has recognized Virginia Tech and Children’s National Hospital as Centers of Excellence, bringing together clinical specialists, trial experts, and research scientists who can design experiments that inform future clinical trials. The early stages of the project will focus on using focused ultrasound to deliver creatine across the blood-brain barrier and restore normal brain mass in models of creatine deficiency.

This pioneering work has the potential to improve brain development, learning, memory, and seizure control in individuals with creatine deficiency disorders. With further research and development, this technique could become a game-changer for patients struggling with neurodevelopmental challenges.

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Dementia

Ambroxol Shows Promise in Slowing Parkinson’s Dementia

Ambroxol, long used for coughs in Europe, stabilized symptoms and brain-damage markers in Parkinson’s dementia patients over 12 months, whereas placebo patients worsened. Those with high-risk genes even saw cognitive gains, hinting at real disease-modifying power.

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The devastating effects of dementia on individuals and their families have long been a major health challenge. Researchers at Lawson Research Institute are making groundbreaking strides by investigating whether Ambroxol, a commonly used cough medicine in Europe, can slow down dementia in people with Parkinson’s disease.

Published in the prestigious JAMA Neurology journal, this 12-month clinical trial involving 55 participants with Parkinson’s disease dementia (PDD) has provided promising results. The study, led by Cognitive Neurologist Dr. Stephen Pasternak, aimed to alter the course of Parkinson’s dementia and explore a new treatment avenue where few currently exist.

The clinical trial gave one group daily Ambroxol while the other received a placebo. Participants were monitored for memory loss, psychiatric symptoms, and GFAP, a blood marker linked to brain damage. The results indicate that Ambroxol may support brain function, especially in those genetically at risk of developing Parkinson’s disease dementia.

Ambroxol works by supporting the enzyme glucocerebrosidase (GCase), which is often low in individuals with Parkinson’s disease. This enzyme plays a crucial role in breaking down waste in brain cells, and when it doesn’t work properly, damage can occur. Dr. Pasternak learned about Ambroxol during his fellowship at The Hospital for Sick Children, where it was identified as a treatment for Gaucher disease – a rare genetic disorder caused by a deficiency of GCase.

The findings of this study are crucial because they suggest that Ambroxol may protect brain function in people with Parkinson’s-related diseases. This research is vital, especially since Parkinson’s dementia profoundly affects patients and families. If a drug like Ambroxol can help slow down its progression, it could offer real hope and improve lives.

Funded by the Weston Foundation, this study is an essential step toward developing new treatments for Parkinson’s disease and other cognitive disorders, including dementia with Lewy bodies. Dr. Pasternak and his team plan to start a follow-up clinical trial focused specifically on cognition later this year, further solidifying their commitment to finding effective solutions for individuals affected by these devastating diseases.

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