monogenic diseases Flashcards
mitochondrial disorders: list two examples of mitochondrial disorders, explaining transmission patterns and the implications of heteroplasmy for counselling
1
Q
pattern of mitochondrial inheritance
A
inherited maternally
2
Q
why is the phenotype varies and effect on genetic counselling
A
heteroplasmy: multiple mitochondrial DNA genomes within each cell, affecting severity (and creating new strains), making genetic counselling difficult
3
Q
MELAS
A
progressive to fatal; single point mutation in several genes; characterised by dementia and myopathy
4
Q
LHON
A
deletion in NADH dehydrogenase; eventually causing blindness
5
Q
preventing mitochondrial disorders
A
prevented with 3 parent babies: oocyte donor, female nucleus, sperm
