Modulation of mtDNA copy number ameliorates the pathological consequences of a heteroplasmic mtDNA mutation in the mouse

• DOI: 10.1126/sciadv.aav9824
• Publication Date: 2019-04-03T23:14:26Z
• Authors: R. Filograna; C. Koolmeister; M. Upadhyay; A. Pajak; P. Clemente; R. Wibom; M. L. Simard; A. Wredenberg; C. Freyer; J. B. Stewart; N. G. Larsson
• Keywords: Male; 0303 health sciences; Mitochondrial Diseases; DNA Copy Number Variations; Cytochrome-c Oxidase Deficiency; DNA, Mitochondrial; Mitochondria; Mice, Inbred C57BL; Mice; 03 medical and health sciences; Phenotype; Mutation; Animals; Female; Myocytes, Cardiac; Cardiomyopathies; Research Articles

The severity of mitochondrial disease caused by mutations of mtDNA does depend on the absolute amount of wild-type mtDNA.