How the most common mitochondrial DNA mutation (m.3243A>G) vanishes from leukocytes: a mathematical model.

Abstract excerpt

Mitochondrial diseases may be caused by alterations of the mitochondrial genome. The pathogenic variant m.3243A>G is one of the most frequent causes of mitochondrial disease and the most common mitochondrial DNA mutation. Patients with a variant in mitochondrial DNA can have a mixture of mutated and wild-type genomes (heteroplasmy). In the case of the pathogenic variant m.3243A>G, the degree of heteroplasmy (H)...

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