Modulating heteroplasmy.
Patients with mitochondrial DNA (mtDNA) disease usually harbor a mixture of mutant and wild-type mtDNA (a state termed heteroplasmy), and the clinical features of the disease depend on the percentage of mutant mtDNA (the "mutation load") in vulnerable tissues. Factors that modulate the mutation load are poorly understood, but recent work has started to unravel the mechanisms. In certain circumstances heteroplasmy might be regulated at the level of the individual mitochondrial genome.
Chinnery
Patrick F
PF
Dept of Neurology, The Medical School, Newcastle upon Tyne NE2 4HH, UK. P.F.Chinnery@ncl.ac.uk
D000818:Animals; D004272:DNA, Mitochondrial / Q000235:genetics* / Q000502:physiology; D022781:Hepatocytes / Q000502:physiology; D006801:Humans; D051379:Mice; D008814:Mice, Inbred NZB / Q000235:genetics; D018482:Muscle, Skeletal / Q000502:physiology; D009154:Mutation
D004272:DNA, Mitochondrial