Ontology highlight
ABSTRACT:
SUBMITTER: Filograna R
PROVIDER: S-EPMC6447380 | biostudies-literature | 2019 Apr
REPOSITORIES: biostudies-literature
Filograna R R Koolmeister C C Upadhyay M M Pajak A A Clemente P P Wibom R R Simard M L ML Wredenberg A A Freyer C C Stewart J B JB Larsson N G NG
Science advances 20190403 4
Heteroplasmic mtDNA mutations typically act in a recessive way and cause mitochondrial disease only if present above a certain threshold level. We have experimentally investigated to what extent the absolute levels of wild-type (WT) mtDNA influence disease manifestations by manipulating TFAM levels in mice with a heteroplasmic mtDNA mutation in the tRNA<sup>Ala</sup> gene. Increase of total mtDNA levels ameliorated pathology in multiple tissues, although the levels of heteroplasmy remained the s ...[more]