Modulating heteroplasmy.
Chinnery PF
Trends in Genetics (2002)
Category: heteroplasmy ¤ Added: Oct 20, 2003 ¤ Rating: ◊◊
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.
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