DISEASE, MITOCHONDRIAL

Mutations (changes) in the mitochondrial chromosome are responsible for a number of disorders including an eye disease (Leber’s hereditary optic atrophy), a type of epilepsy (called MERRF which stands for Myoclonus Epilepsy with Ragged Red Fibers), and a cause of dementia (called MELAS for Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like episodes). All mitochondrial diseases were entirely enigmatic before it was discovered that they were due to mutations not in regular chromosomes but the mitochondrial chromosome.