Mitochondrial Diseases Flashcards
1
Q
The extent of heteroplasmy from one generation to the next may change dramatically due to?
A
Genetic bottleneck effect
2
Q
Mutations in tRNA for leucine result in?
A
MELAS
3
Q
Mutations in tRNA for lysine result in?
A
MERFF
4
Q
Missense mutations in several different complex I subunit genes result in?
A
LHON
5
Q
Missense mutations in one or two complex V subunits result in?
A
NARP
6
Q
Outer membrane of mitochondria is?
A
Permeable to small molecules and ions
7
Q
Inner membrane of mitochondria is?
A
Impermeable to most molecules
8
Q
Where is the site of ATP production?
A
Mitochondrial matrix
9
Q
Cardiolipin is synthesized _____________, and functions where?
A
Synthesized in outer membrane, functions to give inner membrane its impermeability
10
Q
Mitochondrial is inherited via?
A
Maternally inherited
