News

Sperm are generally viewed as having just one action in reproduction - to fertilize the female's egg - but studies at the University of Adelaide are overturning that view.

People with a high polygenic risk score for colorectal cancer could benefit more at preventing the disease by leading healthy lifestyles than those at lower genetic risk, according to a study by Vanderbilt researchers published in the April issue of The American Journal of Clinical Nutrition.

After reviewing a database of gene mutations in children with autism spectrum disorder (ASD), a team of Medical University of South Carolina (MUSC) researchers decided to study a specific gene mutation that likely caused ASD in a girl. They demonstrated that the mutation was damaging to the gene, and that female, but not male, mice lacking a working copy of the gene also showed ASD-associated symptoms. Better understanding the interplay between genetics and sex in ASD could set the stage for developing sex-specific treatments for autism.

An interdisciplinary team led by KU Leuven and Stanford has identified 76 overlapping genetic locations that shape both the face and our brain. What the researchers didn't find is evidence that this genetic overlap also predicts someone's behavioral-cognitive traits or risk of conditions such as Alzheimer's disease. This means that the findings help to debunk several persistent pseudoscientific claims about what our face reveals about individuals.

Leigh syndrome is the most severe mitochondrial disease in children. It causes severe muscle weakness, movement defects, and intellectual disabilities. It usually leads to death within the first years of life. No causative treatment is currently available. One of the genes frequently mutated in patients is SURF1, which encodes for a protein involved in the process of energy generation in the cells.

Leigh syndrome is the most severe mitochondrial disease in children. It causes severe muscle weakness, movement defects, and intellectual disabilities. It usually leads to death within the first years of life. No causative treatment is currently available. One of the genes frequently mutated in patients is SURF1, which encodes for a protein involved in the process of energy generation in the cells.