title: Recombination of mitochondrial DNA in skeletal muscle of individuals with multiple mitochondrial DNA heteroplasmy.
abstract: Experimental evidence for human mitochondrial DNA (mtDNA) recombination was recently obtained in an individual with paternal inheritance of mtDNA and in an in vitro cell culture system. Whether mtDNA recombination is a common event in humans remained to be determined. To detect mtDNA recombination in human skeletal muscle, we analyzed the distribution of alleles in individuals with multiple mtDNA heteroplasmy using single-cell PCR and allele-specific PCR. In all ten individuals who carried a heteroplasmic D-loop mutation and a distantly located tRNA point mutation or a large deletion, we observed a mixture of four allelic combinations (tetraplasmy), a hallmark of recombination. Twelve of 14 individuals with closely located heteroplasmic D-loop mutation pairs contained a mixture of only three types of mitochondrial genomes (triplasmy), consistent with the absence of recombination between adjacent markers. These findings indicate that mtDNA recombination is common in human skeletal muscle.
authors: Department of Epileptology, University Bonn Medical Center, Bonn, Germany.
authors: Gábor
authors: G
authors: Zsurka
authors: Yevgenia
authors: Y
authors: Kraytsberg
authors: Tatiana
authors: T
authors: Kudina
authors: Cornelia
authors: C
authors: Kornblum
authors: Christian E
authors: CE
authors: Elger
authors: Konstantin
authors: K
authors: Khrapko
authors: Wolfram S
authors: WS
authors: Kunz
mesh_terms: D004272:DNA, Mitochondrial / Q000235:genetics*; D006801:Humans; D018482:Muscle, Skeletal / Q000378:metabolism*; D016133:Polymerase Chain Reaction; D011995:Recombination, Genetic
chemical_list: D004272:DNA, Mitochondrial