Mitochondrial Disease

Question 1

Kearns-Sayre

Answer 1

Clinical: Eyes most commonly effected, cardiac conduction defects, ataxia, deafness, kidney problems
Mutation: Somatic mutation
single large deletion of tDNA
commonly removes 12 genes

Question 2

Eyes most commonly effected, cardiac conduction defects, ataxia, deafness, kidney problems

Answer 2

Kearns-Sayre

Mutation: Somatic mutation
single large deletion of tDNA
commonly removes 12 genes

Question 3

MELAS

Answer 3

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

Question 4

Muscle weakness, Seizures, repetitive stroke like episodes, elevated lactic acidosis

Answer 4

MELAS

Mutations: Mitochondrial genes
MT-TL1 (80%) plus many others

Question 5

MERRF

Answer 5

Myoclonic epilepsy with ragged red fibers
Clinical: muscle symptoms, seizures, ataxia, dementia, ragged red fibers on muscle biopsy
Mutation: MT-TK

Question 6

muscle symptoms, seizures, ataxia, dementia, ragged red fibers on muscle biopsy

Answer 6

MERRF

Question 7

Leber Hereditary Optic Neuropathy

Answer 7

Clinical: Vision loss, more common in males
Mutation: MT-ND1, 4, 4L, 6

Question 8

Vision loss commonly in males

Answer 8

Leber Hereditary Optic Neuropathy