Association between a common mitochondrial DNA D-loop polycytosine variant and alteration of mitochondrial copy number in human peripheral blood cells

Liou, C-W; Lin, T-K; Chen, J-B; Tiao, M-M; Weng, S-W; Chen, S-D; Chuang, Y-C; Chuang, J-H; Wang, P-W

doi:10.1136/jmg.2010.077552

Association between a common mitochondrial DNA D-loop polycytosine variant and alteration of mitochondrial copy number in human peripheral blood cells

Background A T-to-C transition at mitochondrial DNA (mtDNA) nucleotide position 16189 can generate a variable length polycytosine tract (poly-C). This tract variance has been associated with disease. A suggested pathogenesis is that it interferes with the replication process of mtDNA, which in tu…