title: The inheritance of mitochondrial DNA heteroplasmy: random drift, selection or both?
abstract: 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.
authors.affiliation: Department of Neurology, The Medical School, NE2 4HH., Newcastle upon Tyne, UK.
authors.forename: P F
authors.initials: PF
authors.lastname: Chinnery
authors.forename: D R
authors.initials: DR
authors.lastname: Thorburn
authors.forename: D C
authors.initials: DC
authors.lastname: Samuels
authors.forename: S L
authors.initials: SL
authors.lastname: White
authors.forename: H M
authors.initials: HM
authors.lastname: Dahl
authors.forename: D M
authors.initials: DM
authors.lastname: Turnbull
authors.forename: R N
authors.initials: RN
authors.lastname: Lightowlers
authors.forename: N
authors.initials: N
authors.lastname: Howell
mesh_terms: 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
chemical_list: D004272:DNA, Mitochondrial