Genetic aspects of the oxidative phosphorylation dysfunction in dilated cardiomyopathy

Mutat Res Rev Mutat Res. 2020 Oct-Dec:786:108334. doi: 10.1016/j.mrrev.2020.108334. Epub 2020 Aug 25.


Dilated cardiomyopathy is a frequent and extremely heterogeneous medical condition. Deficits in the oxidative phosphorylation system have been described in patients suffering from dilated cardiomyopathy. Hence, mutations in proteins related to this biochemical pathway could be etiological factors for some of these patients. Here, we review the clinical phenotypes of patients harboring pathological mutations in genes related to the oxidative phosphorylation system, either encoded in the mitochondrial or in the nuclear genome, presenting with dilated cardiomyopathy. In addition to the clinical heterogeneity of these patients, the large genetic heterogeneity has contributed to an improper allocation of pathogenicity for many candidate mutations. We suggest criteria to avoid incorrect assignment of pathogenicity to newly found mutations and discuss possible therapies targeting the oxidative phosphorylation function.

Keywords: Dilated cardiomyopathy; Mitochondrial DNA; Mitochondrial biogenesis; Oxidative phosphorylation; Pathogenicity criteria; Pathologic mutation.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Cardiomyopathy, Dilated / genetics*
  • Cardiomyopathy, Dilated / pathology
  • DNA, Mitochondrial / genetics
  • Humans
  • Mitochondria / genetics
  • Mitochondria / pathology
  • Mutation
  • Oxidative Phosphorylation
  • Phenotype


  • DNA, Mitochondrial