3.6 Mitochondrial genetics

Question 1

True or False? Mitochondria have their own genome?

Answer 1

True

Question 2

what is mitchondrial myopathy?

Answer 2

Muscle disease caused by mitochondrial dysfunction

Question 3

What are 2 characteristics of mitochondrial disorders?

Answer 3

Clinical variability and age related progression of disease

Question 4

What are some clinical characteristics of mitochondrial myopathies?

Answer 4

Muscle weakness, lactic acidosis, neurological signs.

Question 5

What are Ragged Red fibers?

Answer 5

Aggregates of abnormal mito form red sarcolemmal blotches

Question 6

Mitochondria is inherited from what parent?

Answer 6

mom

Question 7

Can mitochondria self replicate?

Answer 7

yes

Question 8

What is heteroplasmy?

Answer 8

Mix of normal mito and mutant mito in one cell.

Question 9

What effect is needed for mutant mito to manifest disease?

Answer 9

Threshold

Question 10

What human systems are usually affected in mitochondrial disease?

Answer 10

Brain/CNS, heart and skeletal muscle

Question 11

What are the 2 rules in mitochondrial inheritance?

Answer 11

Mom pass mito to offspring. Males dont

Question 12

Why are mitochondria prone to mutation?

Answer 12

No DNA repair mechanism,

Question 13

What is MERFF?

Answer 13

there is genotype/phenotype correlation

Question 14

Describe heteroplasmy as it relates to mitchondrial genetic disease*

Answer 14

Mix of normal mito and mutant mito in one cell.

Question 15

Describe the rules of maternal inheritance relating to mitochondrial genetics*

Answer 15

Mom pass mito to offspring