September 18, 2024 by Juntendo University Research Promotion Center S5 mutations disrupt RyR1 channel function, influencing both channel activity and gating mechanisms. This impacts the release of calcium and affects muscle contractions, leading to severe muscle diseases such as malignant hyperthermia and central core disease. Credit: Associate Professor Takashi Murayama from Juntendo University, Japan and...
September 16, 2024 by Dennis Thompson People with rare genetic variants linked to degenerative brain disorders like Parkinson’s disease are at increased risk of developing ALS, a new study finds. Further, having these genetic variants increases the risk of a person having faster-progressing ALS (amyotrophic lateral sclerosis) and dying earlier, researchers found. The strongest link...
SCIENCE & TECHNOLOGY NEWS The vision of people with a rare inherited condition that causes them to lose much of their sight early in childhood was 100 times better after they received gene therapy to address the genetic mutation causing it. Some patients even experienced a 10,000-fold improvement in their vision after receiving the highest...
August 22, 2024 by International Society for Stem Cell Research Epigenetic clocks are impacted by the differentiation stage and proliferation history of cells, as well as by age-associated changes in cell type composition. Credit: Rebecca GorelovHow old are you, really? Your chronological age is the number of years you have been alive. Your biological age...
September 13, 2024 by Karolinska Institutet Long-read RNA-sequencing validates the predicted alternative transcripts related to the ncBAF complex in SF3B1-mutated CLL. Credit: Leukemia (2024). DOI: 10.1038/s41375-024-02379-4RNA-sequencing has become a cornerstone in the study of gene expression, offering insights beyond mere mRNA transcript abundances. One area of increasing interest is alternative splicing, a process that allows...
September 10, 2024 by Tokyo Medical and Dental University Through a comprehensive genetic analysis of patients with PKD but no family history of the disease, researchers found that a mutation in the IFT140 gene was significantly prevalent. Compared to patients with mutations in more commonly affected genes, PKD in people with an IFT140 mutation usually...
September 11, 2024 by University of California, Los Angeles Credit: Pixabay/CC0 Public DomainResearchers have for the first time identified degeneration-associated “molecular markers”—observable changes in cells and their gene-regulating networks—that are shared by several forms of dementia that affect different regions of the brain. Critically, the UCLA-led research, published in the journal Cell, also identified markers...
September 10, 2024 by University of Edinburgh Genetic relationships between ten neurodevelopmental and psychiatric disorders. Credit: Molecular Psychiatry (2024). DOI: 10.1038/s41380-024-02649-8Scientists have shed new light on the genetic basis of dyslexia, showing how it overlaps with that of attention deficit hyperactivity disorder (ADHD). This study, led by the University of Edinburgh, is the first to...
September 9, 2024 by University of Michigan Prostate cancer cells. Credit: NIH Image GalleryResearchers at the University of Michigan Health Rogel Cancer Center have uncovered a key reason that a typically normal protein goes awry and fuels cancer. They found that the protein NSD2 alters the function of the androgen receptor, an important regulator of...
Good News Network Mice on the right display graying and hair loss – Credit: MRC Laboratory of Medical Science / Duke-NUS Medical SchoolScientists have discovered that ‘switching off’ a protein called IL-11 can significantly increase the healthy lifespan of mice by almost 25%. The UK researchers at Medical Research Council Laboratory and Imperial College London,...
