Clinical trial data show that gene therapy can improve hearing in adults as well as in children with mutations in the otoferlin gene (OTOF).
Category: genetics – Page 33
Late eating is associated with impaired glucose metabolism
Our metabolic processes differ depending on the time of day and many of them are more active in the morning than in the evening. Although studies show that eating late in the day is associated with an increased risk of obesity and cardiovascular diseases, little is known about how the time we eat affects glucose metabolism and to what extent this is genetically defined.
Prof. Olga Ramich from the German Institute of Human Nutrition Potsdam-Rehbrücke (DIfE) and her team recently investigated this using data from a twin cohort from 2009-10. Their article was published in the journal eBioMedicine.
The circadian system is a hierarchically structured 24-hour time control system in the body that regulates behavior and metabolism via a central clock in the brain and peripheral clocks in organs such as the liver or pancreas. As a result, our metabolic processes differ depending on the time when we eat, which leads to diurnal fluctuations in glucose metabolism and the release of hormones after a meal.
China regrows mouse ear using genetic switch, eyes human organ repair
Wang Wei and Deng Ziqing, the co-corresponding authors, determined that a shortage of this retinoic acid prevented mice from regenerating their ear pinna (the outer ear).
Researchers have demonstrated that a genetic switch for organ regeneration exists, after restoring damaged outer ears in mice.
This has ignited hope that similar switches might exist for other organs, even in humans.
The study conducted by the National Institute of Biological Sciences, Beijing, zeroes in on a crucial molecule: retinoic acid, a derivative of vitamin A.
Healthy lifestyle linked to lower diverticulitis risk, irrespective of genetic susceptibility
Maintaining a healthy lifestyle—specifically, a diet rich in fiber but light on red/processed meat, regular exercise, not smoking, and sticking to a normal weight—is linked to a significantly lower risk of diverticulitis, finds a large long-term study, published online in the journal Gut.
What’s more, these five components seem to offset the effects of inherited genes, the findings indicate.
Diverticulitis occurs when “pouches” develop along the gut and become inflamed or infected in the wall of the large intestine (colon), explain the researchers. It’s a common cause of hospital admissions and a major reason for emergency colon surgery, they add.
Chinese scientists find genetics shapes brain’s balance linked to mental ability
There is extensive evidence that brain criticality – the balance between neural excitation and inhibition – enhances its information processing capabilities.
But despite the significance of brain criticality and its potential influence on neurological and psychiatric disorders, the genetic basis of this state had been “largely unexplored”, according to researchers from the Chinese Academy of Sciences’ biophysics and automation institutes. “We demonstrate that genetic factors significantly influence brain criticality across various scales, from specific brain regions to large-scale networks,” the team said in their paper published in the peer-reviewed journal Proceedings of the National Academy of Sciences last month.
They also established a link between criticality and cognitive functions, suggesting a shared genetic foundation.
“These findings position brain criticality as a biological phenotype, opening broad avenues for exploring its implications in brain function and potential dysfunctions,” the team wrote.
Brain criticality is characterised by neuronal avalanches, or cascading bursts of neuron activity in brain networks.
“At the critical state, the brain exhibits scale-free dynamics, with avalanches observed across various scales ranging from local networks of individual neurons to the global network of interacting brain areas,” the paper said.
First large-scale stem cell bank enables worldwide studies on genetic risk for Alzheimer’s disease
Alzheimer’s disease (AD) is a common, debilitating neurodegenerative disease affecting about 10% of people over the age of 65 and one third of people aged 85 and above. Besides environmental factors, the genes have a strong influence on whether or not a person develops AD during their lifetime.
Through genome sequencing of DNA from large groups of healthy people and people with AD, some naturally occurring small changes in the DNA, known as genetic variants, were found to be more frequent in AD patients than in healthy people.
As more and more of these AD-associated genetic “risk” variants are discovered, it is now possible to calculate a person’s individual polygenic risk score (PRS), meaning the likelihood of the person developing AD, with high accuracy.
New IQ research shows why smarter people make better decisions
Smarter people don’t just crunch numbers better—they actually see the future more clearly. Examining thousands of over-50s, Bath researchers found the brightest minds made life-expectancy forecasts more than twice as accurate as those with the lowest IQs. By tying cognitive tests and genetic markers to real-world predictions, the study shows how sharp probability skills translate into wiser decisions about everything from crossing the road to planning retirement—and hints that clearer risk information could help everyone close the gap.
Clinical test predicts best rheumatoid arthritis treatment on first try
1 in 100 people in Britain today live with rheumatoid arthritis (RA). Unlike osteoarthritis (OA), RA is caused not by wear and tear but by the body’s immune system attacking its own joints. RA can strike quickly at any age—but is most common for people aged 40–60.
Biological therapies are the leading treatment. Clinicians use engineered proteins made from living cells to slow the disease by targeting the specific parts of the immune system that are going rogue. Over the past 20 years they have led to major improvements in helping patients to live with RA.
However, different patients will react differently to different biological therapies depending upon their genetics. This means individual therapies have a failure rate of approximately 40%.