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Category: genetics

Surprising gene mutation in brain’s immune cells linked to increased Alzheimer’s risk

In a study published in Neuron, a research team at the Department of Neurology at Massachusetts General Hospital, aimed to understand how immune cells of the brain, called microglia, contribute to Alzheimer’s disease (AD) pathology. It’s known that subtle changes, or mutations, in genes expressed in microglia are associated with an increased risk for developing late-onset AD.

The study focused on one such mutation in the microglial gene TREM2, an essential switch that activates microglia to clean up toxic amyloid plaques (abnormal protein deposits) that build up between in the brain. This mutation, called T96K, is a “gain-of-function” mutation in TREM2, meaning it increases TREM2 activation and allows the gene to remain super active.

The researchers explored how this mutation impacts microglial function to increase risk for AD. The team generated a mutant mouse model carrying the mutation, which was bred with a mouse model of AD to have brain changes consistent with AD. They found that in female AD mice exclusively, the mutation strongly reduced the capability of microglia to respond to toxic amyloid plaques, making these cells less protective against brain aging.

Genome-Wide Variation Profile of the Genus Tobamovirus

The genus Tobamovirus belongs to the family Virgaviridae, and the genome consists of monopartite, positive, single-strand RNA. Most species contain four open reading frames encoding four essential proteins. Transmission occurs primarily through mechanical contact between plants, and in some cases, via seed dispersal. Tobamovirus fructirugosum (tomato brown rugose fruit virus, ToBRFV), the most recently described species in the genus, was first reported in 2015. It overcame genetic resistance that had been effective in tomato for sixty years, causing devastating losses in tomato production worldwide, and highlights the importance of understanding Tobamovirus genomic variation and evolution. In this study, we measured and characterized nucleotide variation for the entire genome and for all species in the genus Tobamovirus.

Cancer cells reactivate embryo-like gene editors to fuel growth, research reveals

Cancer cells are known to reawaken embryonic genes to grow. A new study reveals the disease also hijacks the proteins, or “editors,” that control how those genes are read.

The findings, published in the journal Nucleic Acids Research, help explain why tumors grow so fast and adapt so well, and may point the way to new treatments.

Embryonic cells have to grow fast and must be able to transform into many different tissue types. The cells rely on genetic programs that are eventually switched off as tissues mature. Cancer reawakens these programs, giving the disease embryonic-like potential to fuel growth.

How poisonous glands helped modern toads conquer the world

Modern toads (Bufonidae) are among the most successful amphibians on the planet, a diverse group of more than 600 species that are found on every continent except Antarctica. But just how did they conquer the world? An international team of researchers set out to find the answer and discovered the toads’ global success was due to their toxic glands and geological timing.

Modern toads are a type of frog with a stout, squat body, relatively short legs, toothless mouths and a thick, dry, warty skin. One of their most distinctive features is a large behind each eye that secretes a poison to deter predators. They originated in South America and are found in diverse habitats like deserts and rainforests.

To find out how they got from South America to almost every other continent, the scientists analyzed fresh DNA samples from 124 species from Africa, Asia, Europe, South America, North America and Oceania. They combined this with existing from hundreds of other species. Using powerful computer models to process the genetic information, they traced the geological spread of toads over millions of years, identifying when survival features like their poisonous glands evolved and when they branched out to form new species.

Social conflict among strongest predictors of teen mental health concerns, research shows

Approximately 20% of American adolescents experience a mental health disorder each year, a number that has been on the rise. Genetics and life events contribute, but because so many factors are involved, and because their influence can be subtle, it’s been difficult for researchers to generate effective models for predicting who is most at risk for mental health problems.

A new study from researchers at Washington University School of Medicine in St. Louis provides some answers. Published Sept. 15 in Nature Mental Health, it mined an enormous set of data collected from pre-teens and teens across the U.S. and found that social conflicts—particularly family fighting and reputational damage or bullying from peers—were the strongest predictors of near-and long-term mental health issues.

The research also revealed sex differences in how boys and girls experience stress from peer conflict, suggesting that nuance is needed when assessing social stressors in teens.

Longevity gene from supercentenarians offers hope for disease that causes rapid aging in children

A new breakthrough in a rare genetic disease which causes children to age rapidly has been discovered using ‘longevity genes’ found in people who live exceptionally long lives—over 100 years old. The research, by the University of Bristol and IRCCS MultiMedica, found these genes which help keep the heart and blood vessels healthy during aging could reverse the damage caused by this life-limiting disease.

This is the first study, published in Signal Transduction and Targeted Therapy, to show that a gene from long-lived people can slow down heart aging in a model. Also known as Hutchinson-Gilford progeria syndrome (HGPS), progeria is a rare, fatal genetic condition of “rapid-aging” in children.

HGPS is caused by a mutation in the LMNA gene, which leads to the production of a toxic protein called progerin. Most affected individuals die in their teens due to heart problems, although a few, like Sammy Basso, the oldest known person with progeria, have lived longer. Sadly, late last year at the age of 28, Sammy passed away.

Researchers Discover the Cell’s Secret Anti-Aging Mechanism

Activating lysosome biogenesis helps alleviate cellular senescence in progeria. Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic condition that causes rapid aging and a range of visible and internal symptoms. Individuals with HGPS often experience early skin wrinkling, reduced skin ela

Gene therapy delivers lasting immune protection in children with rare disorder

An experimental gene therapy developed by researchers at UCLA, University College London and Great Ormond Street Hospital has restored and maintained immune system function in 59 of 62 children born with ADA-SCID, a rare and deadly genetic immune disorder.

Severe combined immunodeficiency due to adenosine deaminase deficiency, or ADA-SCID, is caused by mutations in the ADA gene, which creates an enzyme essential for immune function. For children with the condition, day-to-day activities like going to school or playing with friends can lead to dangerous, life-threatening infections. If untreated, ADA-SCID can be fatal within the first two years of life.

The current standard treatments— from a matched donor or weekly enzyme injections—come with limitations and potential long-term risks.

Large Genetic Study Links Cannabis Use to Psychiatric, Cognitive and Physical Health

“Cannabis is widely used, but its long-term effects on health remain poorly characterized,” said Sandra Sanchez-Roige, Ph.D., associate professor of psychiatry at UC San Diego School of Medicine and senior author of the study. The researchers were also interested in the relationship between genetics and traits that contribute to the development of cannabis use disorder, which can interfere with a person’s daily life.

“While most people who try cannabis do not go on to develop cannabis use disorder, some studies estimate that nearly 30% will,” said Sanchez-Roige. “Understanding the genetics of early-stage behaviors may help clarify who is at greater risk, opening the door to prevention and intervention strategies.”

The research team conducted a genome-wide association study (GWAS) analyzing relationships between cannabis use and genetic data provided by 131,895 23andMe research participants. They answered survey questions about whether or not they had ever used cannabis, and those who answered yes were also asked how frequently they used the drug.

“We’ve known for decades that genetic factors influence whether or not people will try drugs, how frequently they use those drugs, and the risk that they will become addicted to them,” said Abraham A. Palmer, Ph.D., professor and vice chair for basic research in the department of psychiatry at UC San Diego School of Medicine and co-author of the study. “Genetic tools like GWAS help us identify the molecular systems that connect cannabis use to brain function and behavior.”

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New research has found genetic associations between cannabis use and psychiatric, cognitive, and physical health. The findings could inform prevention and treatment strategies for cannabis use disorders.

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