Transcriptomic analysis of human cybrid cell lines harboring increasing levels of the mitochondrial DNA (mtDNA) 3243A>G mutation

ABSTRACT: Mitochondria generate signals of adaptation that regulate nuclear genes expression via retrograde signaling. But this phenomenon is complexified when qualitatively different mitochondria and mitochondrial DNA (mtDNA) coexist within cells. Although this cellular state of heteroplasmy leads to divergent phenotypes clinically, its consequences on cellular function and the cellular transcriptome are unknown. To interrogate this phenomenon, we generated somatic cell cybrids harboring increasing levels of a common mtDNA mutation (tRNALeu(UUR) 3243A>G) and mapped the resulting cellular phenotypes and transcriptional profiles across the complete range of heteroplasmy. Small increases in mutant mtDNAs caused relatively modest defect in mitochondrial oxidative capacity, but resulted in sharp tra

ORGANISM(S): Homo sapiens

SUBMITTER: Douglas Wallace 

PROVIDER: E-GEOD-56158 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress