Mitochondrial Disease

Question 0

MELAS caused by what mutation?

Answer 0

tRNA Leu

Question 1

LHON caused by what mutation?

Answer 1

Mutation in complex I

Question 2

MERRF causes by what mutation?

Answer 2

tRNA Lys

Question 3

Important facts about LHON

Answer 3

Vision problems

Primarily makes affected

Question 4

Important facts about MERRF

Answer 4

Affects CNS and skeletal muscle
Muscles have RRF
Low complex IV activity

Question 5

Important facts about MELAS

Answer 5

CNS and skel muscle (headaches, dementia)
RRF
Normal complex IV activity

Question 6

Defects that correlate with early onset PD

Answer 6

Mutated α- synuclein (form Lewy bodies)
Mutated ubiquitin-proteasome
Oxidative stress

Question 7

What induced PD in humans and rats?

Answer 7

MPTP

Rotenone

Question 8

What is the basic problem that causes early onset PD?

Answer 8

Dysfunctional complex I

Question 9

Clinical expression of mitochondrial disease determined by

Answer 9

Ratio of mutant to normal mtDNA

How dependent tissue is on ox phos

Question 10

Sensitivity to mutations in mtDNA / energy demand / dependence on ox phos: rank the tissues

Answer 10

CNS
Heart & skel m
Renal
Endocrine
Liver

Question 11

Proteins encoded in mitochondrial genome are part of what pathway?

Answer 11

ETC

Question 12

Why do mtDNA have higher mutation rate than nuclear DNA?

Answer 12

Decreased DNA repair

High level of ROS production