New results from the FinnGen project yielded a trove of novel genetic discoveries, linking previously unknown genes to an array of health disorders.
The autism-associated TOP2B H58Y genetic mutation was significantly less mobile than the TOP2B WT mutation. Researchers say TOP2B H58Y's retrained movement is mediated by ATPase activity.
Researchers have developed a new family of nano-scale capsules capable of carrying CRISPR gene editing tools to different organs of the body before harmlessly dissolving. The capsules were able to enter the brains of mice and successfully edit a gene associated with Alzheimer's disease.
Males with the BIN1 Alzheimer's genetic risk factor and poor vascular health showed steeper and more rapid declines in memory than females.
A novel mRNA delivery method that uses extracellular vesicles initiates collagen replacement in photoaged skin. A single injection increased collagen production and reduced wrinkle formation in targeted areas for two months. Researchers say the new delivery method could be used to treat a number of disorders including ones associated with protein loss associated with aging and hereditary disorders where genes and proteins are missing.
In glioblastoma brain cancer, EGFR (HER1) genetic mutations lead to a movement of a large part of the extracellular region of the protein. This activates the intracellular area in a particular way that drives glioblastoma tumor development.
Researchers say a gene found in many centenarians can reverse the biological age of the heart by ten years. The findings offer a potential target for patients with heart failure.
Postmortem brains of those with schizophrenia have fewer genes associated with 12-hour activity cycles in the dorsolateral prefrontal cortex. Mitochondrial-related genes in the dlPFC did maintain a 12-hour rhythm, but their activity did not peak at normal times.
Exposure to drugs that target tauopathies extended survival, reduced neurodegenerative biomarkers, and functionally reduced aberrant behaviors in female mice, but not in males.
Paternal exposure to chemicals in plastics can affect the metabolic health of offspring for two generations, a new study reports. Parental exposure to DCHP leads to higher resistance and impaired insulin signaling in both the first and second generations of offspring.
CRISPR gene editing created the G795A amino acid which was introduced to microglia derived from human stem cells. Researchers were able to transplant the donor microglia immune cells into humanized rodent models while administering an FDA-approved cancer drug called pexidartinib. The inclusion of the amino acid cause the donated microglia to thrive and resist the drug, while the host microglia died. The findings open the door for new methods of using microglia to treat a range of neurodegenerative disorders.
Natural resistance to capsaicin's effect in birds drove researchers to investigate a specific genetic variant that appears to be associated with pain resistance. They discovered the K710N human variant dialed down pain associated with capsaicin while enhancing the protective benefits of TRPV1. The findings could pave the way for the development of new treatments to manage pain.
