Mitochondrial disorders Flashcards Preview

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Flashcards in Mitochondrial disorders Deck (13)
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1

Heteroplasmy

Mixed population of normal/mutant mitochondria w/in the same cell

2

Threshold effect

Need to reach a certain amount of mutant mt within cells b4 disease phenotype can be expressed

3

Leigh syndrome characteristics

4

MELAS characteristics

5

MERRF characteristics

6

LHON characteristics

7

Leigh Syndrome nuclear dna mutations affect __ and __ of the ETC

8

mitochondrial dna depletion syndromes characteristics

9

mt dna depletion syndrome clinical presentations (describe the 4 types)

10

mt dna depletion syndrome diagnostic testing (3 things to look for/do)

11

Sporadic mutation characteristics

12

Kearns-Sayre Syndrome characteristics

13

3 ways you would treat MT disorders