Mitochondrial disorder

Question 1

Mitochondria genome is inherited ____.

Answer 1

Maternally

Question 2

What are differences of mitochondrial genome versus nuclear genome?

Answer 2

37 genes
A high & variable number of DNA copies per cell
Very little non - coding DNA
No introns

Question 3

Mutations in genes on these mitochondrial chromosomes can cause disease and this was
first shown in 1988 for a maternally inherited type of blindness called?

Answer 3

Leber optic neuropathy

Question 4

Since the characerization of leber optic neuropathy, it has been shown that many different mitochondrial mutations, including ____, ____, and ____, alone or in combination, can result in a variety of different disorders.

Answer 4

point mutations; deletions; duplications

Question 5

The relationship between genotype & phenotype is not straightforward, in part due to ____, the tendency for a mitochondrial mutation to be present in only a proportion of the cell ’s mitochondrial genome copies

Answer 5

heteroplasmy