Mitochondrial DNA Depletion Syndromes

Mitochondrial DNA Depletion Syndromes (MDDS) are rare genetic disorders in which the amount of mitochondrial DNA in cells is abnormally low. Mitochondria are the cell’s energy producers, so when their DNA is depleted, energy production falters. This can lead to severe symptoms affecting muscles, brain, liver, and other organs, often presenting in infancy or childhood. MDDS are caused by mutations in specific genes responsible for maintaining mitochondrial DNA. Although there is no cure, managing symptoms and supportive care can help improve quality of life for affected individuals.