Mitochondrial disease caused by the m.3243A>G mutation

Abstract

Mitochondrial disease is among the most commonly occurring metabolic disorders and is relevant for many medical specialties. This clinical review article discusses one of the most common mutations causing mitochondrial disease, namely m.3243A>G. The mutation can lead to diabetes mellitus, hearing loss, cardiac and muscle involvement, encephalopathy and epilepsy, gastric and intestinal problems and visual impairment, frequently in combination. Better knowledge of mitochondrial disease caused by the m.3243A>G mutation would improve both the diagnosis and treatment of patients who may suffer from a serious and life-threatening disease.