The inheritance of mitochondrial DNA heteroplasmy: random drift, selection or both?
The mammalian mitochondrial genome (mtDNA) is a small double-stranded DNA molecule that is exclusively transmitted down the maternal line. Pathogenic mtDNA mutations are usually heteroplasmic, with a mixture of mutant and wild-type mtDNA within the same organism. A woman harbouring one of these mutations transmits a variable amount of mutant mtDNA to each offspring. This can result in a healthy child or an infant with a devastating and fatal neurological disorder. Understanding the biological basis of this uncertainty is one of the principal challenges facing scientists and clinicians in the field of mitochondrial genetics.
Chinnery
P F
PF
Department of Neurology, The Medical School, NE2 4HH., Newcastle upon Tyne, UK.
Thorburn
D R
DR
Samuels
D C
DC
White
S L
SL
Dahl
H M
HM
Turnbull
D M
DM
Lightowlers
R N
RN
Howell
N
N
D000818:Animals; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006801:Humans; D051379:Mice; D009154:Mutation; D011110:Polymorphism, Genetic; D012641:Selection, Genetic; D013045:Species Specificity
D004272:DNA, Mitochondrial