Mitochondrial Disease Flashcards
Kearns-Sayre
Clinical: Eyes most commonly effected, cardiac conduction defects, ataxia, deafness, kidney problems
Mutation: Somatic mutation
single large deletion of tDNA
commonly removes 12 genes
Eyes most commonly effected, cardiac conduction defects, ataxia, deafness, kidney problems
Kearns-Sayre
Mutation: Somatic mutation
single large deletion of tDNA
commonly removes 12 genes
MELAS
Mitochondrial encephalomyopathy, lactic acidosis, and stroke like episodes
Clinical: Muscle weakness, Seizures, repetitive stroke like episodes, elevated lactic acidosis
Mutations: Mitochondrial genes
MT-TL1 (80%) plus many others
Muscle weakness, Seizures, repetitive stroke like episodes, elevated lactic acidosis
MELAS
Mutations: Mitochondrial genes
MT-TL1 (80%) plus many others
MERRF
Myoclonic epilepsy with ragged red fibers
Clinical: muscle symptoms, seizures, ataxia, dementia, ragged red fibers on muscle biopsy
Mutation: MT-TK
muscle symptoms, seizures, ataxia, dementia, ragged red fibers on muscle biopsy
MERRF
Leber Hereditary Optic Neuropathy
Clinical: Vision loss, more common in males
Mutation: MT-ND1, 4, 4L, 6
Vision loss commonly in males
Leber Hereditary Optic Neuropathy