(HealthDay)—Functionally impaired variants in the COQ2 gene, which encodes the enzyme parahydroxybenzoate-polyprenyl transferase, have been identified in multiplex families with multiple-system atrophy and in ...

Seeking to improve the lives of sickle cell anemia sufferers around the world, researchers from the La Jolla Institute for Allergy and Immunology, the Dana-Farber/Children's Hospital Cancer Center in Boston and the BloodCenter ...

(Medical Xpress)—DNA is often called the blueprint of life, but the four-letter combinations that make up the genetic code are just part of the story. Built upon the DNA lies additional epigenetic information ...

Physicians and researchers from Sherbrooke, Montreal and Quebec City have conducted a study that has led to the discovery of a gene that causes multiple intestinal atresia (MIA), a rare and life-threatening hereditary disorder ...

Low levels of vitamin D can trigger hypertension, according to the world's largest study to examine the causal association between the two. Although observational studies have already shown this link, a large-scale genetic ...

A study in Schizophrenia Bulletin is among the first to indicate epigenetic changes related to immune function in schizophrenia. DNA methylation, a process involving the addition of a methyl group to the DNA without changi ...

The group of genetic conditions known as spinocerebellar ataxias currently have no treatment or cure and are always fatal, in the case of affected children at an early age. Symptoms include a progressive lack of co-ordination ...

French scientists have discovered that supposedly rare mutations in the mitochondria, the 'power plants' of human cells responsible for creating energy, account for more than 7% of patients with a mitochondrial disease manifesting ...

(Medical Xpress)—In a new paper, USC Dornsife molecular and computational biologists Norman Arnheim and Peter Calabrese and their team found that the longer a man waits to have children, the greater the chance of having ...

(Medical Xpress)—One of the genes which causes a muscle disease so severe that newborn babies rarely survive beyond a few days has been discovered by an international team of scientists, coordinated by ...