Mitochondrial Disease Flashcards Preview

Drugs and diseases > Mitochondrial Disease > Flashcards

Flashcards in Mitochondrial Disease Deck (8)
Loading flashcards...
1

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

2

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

3

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

4

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

MELAS

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

5

MERRF

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

6

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

MERRF

7

Leber Hereditary Optic Neuropathy

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

8

Vision loss commonly in males

Leber Hereditary Optic Neuropathy