Mitochondrial disorder Flashcards
Mitochondria genome is inherited ____.
Maternally
What are differences of mitochondrial genome versus nuclear genome?
37 genes
A high & variable number of DNA copies per cell
Very little non - coding DNA
No introns
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?
Leber optic neuropathy
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.
point mutations; deletions; duplications
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
heteroplasmy