Mitochondrial DNA, mitochondrial dysfunction, and cardiac manifestations

Front Biosci (Landmark Ed). 2017 Mar 1;22(7):1177-1194. doi: 10.2741/4541.

Abstract

Mitochondria, are the powerhouses of cells, have their own DNA (mtDNA), regulate the transport of metabolites and ions, and impact cell physiology, survival, and death. Mitochondrial dysfunction, including impaired oxidative phosphorylation, preferentially affects heart function due to an imbalance of energy supply and demand. Recently, mitochondrial mutations and associated mitochondrial dysfunction were suggested as a causal factor of cardiac manifestations. Oxidative stress largely influences mtDNA stability due to oxidative modifications of mtDNA. Furthermore, the continuous replicative state of mtDNA and presence of minimal nucleoid structure render mitochondria vulnerable to oxidative damage and subsequent mutations, which impair mitochondrial functions. However, the occurrence of mtDNA heteroplasmy in the same mitochondrion or cell and presence of nuclear DNA-encoded mtDNA repair systems raise questions regarding whether oxidative stress-mediated mtDNA mutations are the major driving force in accumulation of mtDNA mutations. Here, we address the possible causes of mitochondrial DNA mutations and their involvement in cardiac manifestations. Current strategies for treatment related to mitochondrial mutations and/or dysfunction in cardiac manifestations are briefly discussed.

Publication types

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

MeSH terms

  • Animals
  • DNA Damage
  • DNA Repair
  • DNA, Mitochondrial / genetics*
  • DNA, Mitochondrial / metabolism*
  • Heart Diseases / genetics*
  • Heart Diseases / metabolism*
  • Heart Diseases / therapy
  • Humans
  • Mitochondria, Heart / metabolism*
  • Mitochondrial Diseases / genetics
  • Mitochondrial Diseases / metabolism
  • Mitochondrial Diseases / therapy
  • Mutation
  • Oxidative Stress

Substances

  • DNA, Mitochondrial