Mitochondrial Disease Flashcards

1
Q

Kearns-Sayre

A

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

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2
Q

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

A

Kearns-Sayre

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

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3
Q

MELAS

A

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

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4
Q

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

A

MELAS

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

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5
Q

MERRF

A

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

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6
Q

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

A

MERRF

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7
Q

Leber Hereditary Optic Neuropathy

A

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

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8
Q

Vision loss commonly in males

A

Leber Hereditary Optic Neuropathy

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