Mitochondrial disorder Flashcards

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1
Q

Mitochondria genome is inherited ____.

A

Maternally

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2
Q

What are differences of mitochondrial genome versus nuclear genome?

A

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

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3
Q

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?

A

Leber optic neuropathy

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4
Q

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.

A

point mutations; deletions; duplications

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5
Q

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

A

heteroplasmy

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