Mitochondrial Disease

Question 1

What are the 4 major mitochondrial diseases and how do they generally come about?

Answer 1

Mitochondrial muscle disease by mitochondrial dysfunction

MERRF
MELAS
KSS
CPEO
LHON

Question 2

What generally occurs when you have mitochondrial myopathy?

Answer 2

Degeneration of muscle fibers caused by accumulation of abnormal mito.

Question 3

What is ragged red fibers?

Answer 3

Aggregates of abnormal mitochondria form red sarcolemmal blotches

Question 4

Mitochondrial egenes encode how many gene products and protein?

Answer 4

37;13

Question 5

What are the two types of mutations that arise from mitochondria?

Answer 5

Point mutations (MELAS and MERRF)

Deletions/Rearrangement(KSS and CPEO)

Question 6

What is MERRF?

Answer 6

Myoclonus epilepsy with ragged red fibers

Question 7

MELAS

Answer 7

Mitochondrial encephalopathy lactic acidosis and stroke-like episodes

Question 8

KSS

Answer 8

Kearns-Sayre Syndrome

Question 9

CPEO

Answer 9

Chronic progressive external opthalmoplegia

Question 10

LHON

Answer 10

Leber Hereditary Optic Neuropathy

Question 11

Mitochondria respiration have ___ complexes while ETC have ___ complexes?

Answer 11

5;4