White: Mitochondrial genetics and disease Flashcards
1
Q
Mitochondrial DNA characteristics
A
Inherited from mother
Contains 37 genes for 13 proteins and 24 parts of the machinery to make proteins
2
Q
Rate of mtDNA mutations is _______ than in nuclear genes
A
Higher
3
Q
Heteroplasmy
A
Mixture of mutant and normal mitochondria in a cell
4
Q
Mitochondrial DNA facts
A
No DNA repair mechanism
No recombination of mito DNA
10x higher mutation rate than nuclear DNA
5
Q
What leads to MELAS and MERRF
A
Point mutations in mtDNA tRNA genes
6
Q
What leads to KSS and CPEO
A
mtDNA genome deletions and rearrangements
7
Q
MERRF cause
A
90% caused by 2 mutations of tRNA
8
Q
KSS cause
A
85% caused by mtDNA rearrangements including duplicated DNA, deleted DNA and insertions
9
Q
LHON
A
Mitochondrial mutation only affects optic nerve
mtDNA mutations in coding genes of complex I proteins
