Ontology highlight
ABSTRACT:
SUBMITTER: Trifunov S
PROVIDER: S-EPMC6076247 | biostudies-literature | 2018 Aug
REPOSITORIES: biostudies-literature
Trifunov Selena S Pyle Angela A Valentino Maria Lucia ML Liguori Rocco R Yu-Wai-Man Patrick P Burté Florence F Duff Jennifer J Kleinle Stephanie S Diebold Isabel I Rugolo Michela M Horvath Rita R Carelli Valerio V
Scientific reports 20180803 1
Deletions in mitochondrial DNA (mtDNA) are an important cause of human disease and their accumulation has been implicated in the ageing process. As mtDNA is a high copy number genome, the coexistence of deleted and wild-type mtDNA molecules within a single cell defines heteroplasmy. When deleted mtDNA molecules, driven by intracellular clonal expansion, reach a sufficiently high level, a biochemical defect emerges, contributing to the appearance and progression of clinical pathology. Consequentl ...[more]