Mitochondrial Inherited Diseases Flashcards

1
Q

MERRF (Myoclonic Epilepsy associated with

ragged red fiber)

A

The A-to-G mutation at nucleotide 8344 accounts for 80-90% of disease: MTTK (mitochondrial lysyl-tRNA gene).

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2
Q

MELAS (Mitochondrial Encephalomyopathy
with Lactic
Acidosis and Stroke-like episodes)

A

Mutations in tRNA and ND genes such as MTTL1 (3243A-G) and MTTQ (4332G-A)

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3
Q

LHON (Leber Hereditary Optic Neuropathy)

A

Common mutations in ND genes, including G11778A (69%)(ND4).

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4
Q

Deletoial mutations in mtDNA

A

KSS (Kearns-Sayre syndrome)/Pearson syndrome/CPEO (Chronic Progressive Opthalmoplegia)

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5
Q

Mutations in nuclear genes

A

PEO, Alpers/Ataxia, Leigh Syndrome

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6
Q

Neuro Symptoms

A

Myoclonus epilepsy, ataxia, and, spasticity

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7
Q

Muscle Symptoms

A

Muscle weakness and myopathy.

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8
Q

Eye and Ear Symptoms

A

Sensorineural hearing and/or vision loss

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9
Q

Mitochondrial Genome

A

24 out of a total 37 genes in mitochondrial genome code for RNA involved in the translation; 2 rRNAs and 22 tRNA

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