By studying a gene associated with congenital heart defects, scientists uncovered a mechanism showing how small reductions in protein levels can disrupt DNA’s three-dimensional structure and lead to disease. A baby can inherit one healthy copy of TBX5 and still develop serious heart defects if the other copy does not work. That genetic imbalance is [...]

New research suggests that low oxygen levels may help alleviate disease caused by defects in mitochondrial quality control. Oxygen is essential for people—and most other organisms—but more is not always better. When oxygen accumulates beyond what cells can safely use, it can become toxic and contribute to serious health problems. In the brain, excess oxygen [...]

Scientists have uncovered an early brain mechanism that may help explain why people carrying the APOE4 gene face a higher risk of Alzheimer’s disease. For millions of people who carry the APOE4 gene, the strongest known genetic risk factor for Alzheimer’s disease, changes in brain activity may start years before memory problems become noticeable. Researchers [...]