Tissue-specific mtDNA abundance from exome data and its correlation with mitochondrial transcription, mass and respiratory activity

AM D'Erchia, A Atlante, G Gadaleta, G Pavesi… - Mitochondrion, 2015 - Elsevier
Eukaryotic cells contain a population of mitochondria, variable in number and shape, which
in turn contain multiple copies of a tiny compact genome (mtDNA) whose expression and
function is strictly coordinated with the nuclear one. mtDNA copy number varies between
different cell or tissues types, both in response to overall metabolic and bioenergetics
demands and as a consequence or cause of specific pathological conditions. Here we
present a novel and reliable methodology to assess the effective mtDNA copy number per …