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Category: genetics – Page 2

Tiny BAP1 mutations can disrupt internal signals that suppress tumor growth

Scientists at the Institute of Biochemical Sciences at National Taiwan University have uncovered how tiny genetic changes can disable one of the body’s most important tumor-suppressing proteins. Their study, published in Nature Communications, reveals how cancer-associated mutations interfere with the function of BRCA1-associated protein 1 (BAP1), a protein that helps maintain normal cell growth and is frequently mutated in cancers such as mesothelioma, uveal melanoma and kidney cancer.

Although many cancer mutations in BAP1 have been identified over the years, it has remained unclear exactly how they impair the protein. To answer this question, the research team examined nearly 50 cancer-associated mutations using advanced nuclear magnetic resonance (NMR) spectroscopy, computer simulations and biochemical experiments.

Aspirin reverses diet-driven depression-like behavior in mice

Depression is among the most common psychiatric disorders, estimated to affect between 280 million and 332 million people worldwide. This disorder is characterized by persistent sadness and hopelessness, low energy, a loss of interest in everyday activities and sometimes changes in appetite or sleep.

Several factors can contribute to the onset of depression, including genetics, chronic stress, traumatic or challenging life events and biochemical imbalances in the brain. Recent studies suggest that people’s diets can also sometimes influence their mental health and may play a role in the emergence of depressive symptoms.

Some research findings suggest that the long-term consumption of foods rich in fat is linked to an increased risk of depression. The biological processes underpinning this relationship, however, have not yet been clearly elucidated.

Neutrophilderived itaconate facilitates tiered pulmonary inflammation via Kdm5bassociated epigenetic remodeling in alveolar macrophages

Lim et al. identify neutrophil-derived itaconate as a key environmental factor shaping tiered inflammatory responses in ALI. Itaconate metabolically promotes KDM5B-associated epigenetic activation of proinflammatory genes in alveolar macrophages, coordinating later-stage immune cell infiltration, including monocytes and T cells.

Team uses AlphaFold AI to redesign geneediting proteins to make them safer

A couple of decades after the discovery of systems that could selectively target DNA, we’re starting to see the first therapies based on gene editing. One challenge these developments have faced is safety. While we can make them pretty specific to the gene we want edited, the human genome is very large, and even rare DNA sequences can appear a couple of times by chance.

As a result, all the original gene-editing systems had known rates of what are called off-target effects, in which they simply edit the wrong sequence. This may be a low-probability event, but edit enough cells—and therapies generally have to edit many—and errors become inevitable.

A lot of effort has gone into finding ways to minimize or eliminate off-target edits. In a recent issue of Nature, researchers described modifying the AI protein-folding software AlphaFold to help identify key areas of gene-editing proteins responsible for off-target effects. Those areas were then modified to reduce the problems.

Inside the World’s First Age Reversal Trial | Lifespan with Dr. David Sinclair — S2, Ep. 4

At Lifespan, our mission is to help you and your loved ones live your longest, healthiest lives while supporting medical research into breakthroughs to improve all lives.

We’re building the world’s largest longevity community: Join us at https://lifespan.com.

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In this episode of Lifespan, Dr. David Sinclair, A.O., Ph.D. – Professor of Genetics at Harvard Medical School and pioneer in longevity research – explores the science of eye aging, vision loss, and emerging strategies to preserve vision throughout life.

Dr. Sinclair shares an inside update on ER-100, including his team’s successful restoration of vision in non-human primates and the launch of the world’s first FDA-cleared age reversal human clinical trial. This Phase 1 clinical trial will evaluate the safety of epigenetic cellular restoration as a therapy.

Additionally, drawing on decades of research, Dr. Sinclair explains why the eyes may offer one of the earliest windows into biological aging, how everyday factors such as sleep position, alcohol consumption, and intraocular pressure influence long-term eye health, and what the latest evidence reveals about nutrition, supplements, and the connection between the eyes and the brain.

Continue reading “Inside the World’s First Age Reversal Trial | Lifespan with Dr. David Sinclair — S2, Ep. 4” | >

Programmable platform enables on-demand design of plant immune receptors against crop pathogens

Crop production faces threats from plant pathogens. Traditional disease-resistance breeding relies heavily on natural plant resistance genes that encode immune receptors adapted to particular pathogens. However, rapidly evolving pathogens frequently overcome these natural defenses, and the limited diversity of naturally occurring immune receptors makes it difficult to develop crops with durable resistance.

Now, a team led by Professor Gao Caixia at the Institute of Genetics and Developmental Biology (IGDB) of the Chinese Academy of Sciences has developed a programmable platform for the on-demand design of synthetic plant immune receptors (SPIRs) that recognize proteins from diverse plant pathogens.

The study was published online in Science on July 23.

Three genetic modifiers may alter inherited Alzheimer’s onset and progression

Autosomal dominant Alzheimer’s disease (ADAD) is a genetically inherited form of Alzheimer’s disease that accounts for only about 1% of Alzheimer’s disease cases. However, because individuals with the gene mutations are extremely likely to develop Alzheimer’s disease at an early age, and because the mutation is highly heritable, ADAD is widely studied by Alzheimer’s disease researchers.

A new study by WashU Medicine researchers and collaborators, published in The Lancet Neurology, identified variants in three other genes that seem to change how Alzheimer’s disease presents in people with ADAD mutations. Pinpointing these and other genetic factors that affect Alzheimer’s disease development and progression may allow investigators to provide more effective genetic counseling for families, design clinical trials and develop new treatments to prevent or slow Alzheimer’s disease in the larger population.

Previous studies had already identified three key genes—amyloid precursor protein (APP), presenilin 1 (PSEN1) and presenilin 2 (PSEN2)—that are associated with ADAD, as well as 279 variants in those genes that lead to Alzheimer’s disease. What remains unclear, however, is what leads to differences in disease onset and progression among individuals who have a disease-causing variant. For instance, even if a person carries an APP, PSEN1 or PSEN2 mutation and is therefore very likely to develop early-onset Alzheimer’s, there is variability in when symptoms of cognitive decline might begin, even among individuals who have the same disease-causing mutation.

Rogue DNA can move from cell to cell and change how they function

“We were looking at this in a two-dimensional culture, but in actual human tissue where cells are packed together very tightly, you might anticipate that this would occur even more frequently,” said Gary Gorbsky, OMRF professor and study co-author. “This opens up the possibility of a new process of genetic transfer of information.”

What effect did rogue DNA have on the new cell?

To test whether this new DNA that came from another cell had a functional impact on the new cell, the scientists engineered donor cells with resistance to a specific antibiotic. After combining donor and recipient cells in culture and inducing chromosome damage, they found that recipient cells acquired the same antibiotic resistance – direct evidence that mammalian cells can trade genetic material through simple cell-to-cell contact.

Genome tool places large genetic sequences precisely in rice and tobacco without DNA breaks

Researchers at King Abdullah University of Science and Technology (KAUST) have developed a new way to add large pieces of genetic information to plants, overcoming a challenge that has limited plant biotechnology for decades. The advance could help scientists build more complex traits into plants in the future, supporting research into areas such as crop resilience, sustainable agriculture, biotechnology and the use of plants as scalable platforms for producing therapeutics and biologics.

Published in Nature Biotechnology, the study introduces a new genome engineering approach that allows scientists to place large genes into specific locations within plant genomes. The approach was successfully demonstrated in both tobacco and rice, opening new possibilities for future research in agricultural biotechnology, synthetic biology and plant-based biomanufacturing.

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