Mitochondrial disorders Flashcards
1
Q
Heteroplasmy
A
Mixed population of normal/mutant mitochondria w/in the same cell
2
Q
Threshold effect
A
Need to reach a certain amount of mutant mt within cells b4 disease phenotype can be expressed
3
Q
Leigh syndrome characteristics
A
4
Q
MELAS characteristics
A
5
Q
MERRF characteristics
A
6
Q
LHON characteristics
A
7
Q
Leigh Syndrome nuclear dna mutations affect __ and __ of the ETC
A
8
Q
mitochondrial dna depletion syndromes characteristics
A
9
Q
mt dna depletion syndrome clinical presentations (describe the 4 types)
A
10
Q
mt dna depletion syndrome diagnostic testing (3 things to look for/do)
A
11
Q
Sporadic mutation characteristics
A
12
Q
Kearns-Sayre Syndrome characteristics
A
13
Q
3 ways you would treat MT disorders
A
