Ontology highlight
ABSTRACT:
SUBMITTER: Durham SE
PROVIDER: S-EPMC1950909 | biostudies-literature | 2007 Jul
REPOSITORIES: biostudies-literature
Durham Steve E SE Samuels David C DC Cree Lynsey M LM Chinnery Patrick F PF
American journal of human genetics 20070523 1
Mitochondrial DNA (mtDNA) mutations are a common cause of human disease and accumulate as part of normal ageing and in common neurodegenerative disorders. Cells express a biochemical defect only when the proportion of mutated mtDNA exceeds a critical threshold, but it is not clear whether the actual cause of this defect is a loss of wild-type mtDNA, an excess of mutated mtDNA, or a combination of the two. Here, we show that segments of human skeletal muscle fibers harboring two pathogenic mtDNA ...[more]