Mitochondrial Dysfunction as an Underlying Cause of Skeletal Muscle Disorders

Int J Mol Sci. 2022 Oct 26;23(21):12926. doi: 10.3390/ijms232112926.

Abstract

Mitochondria are an important energy source in skeletal muscle. A main function of mitochondria is the generation of ATP for energy through oxidative phosphorylation (OXPHOS). Mitochondrial defects or abnormalities can lead to muscle disease or multisystem disease. Mitochondrial dysfunction can be caused by defective mitochondrial OXPHOS, mtDNA mutations, Ca2+ imbalances, mitochondrial-related proteins, mitochondrial chaperone proteins, and ultrastructural defects. In addition, an imbalance between mitochondrial fusion and fission, lysosomal dysfunction due to insufficient biosynthesis, and/or defects in mitophagy can result in mitochondrial damage. In this review, we explore the association between impaired mitochondrial function and skeletal muscle disorders. Furthermore, we emphasize the need for more research to determine the specific clinical benefits of mitochondrial therapy in the treatment of skeletal muscle disorders.

Keywords: OXPHOS; mitochondrial chaperone protein; mitochondrial dynamics; mitochondrial dysfunction; mitophagy; mtDNA mutation; skeletal muscle disorders.

Publication types

  • Review

MeSH terms

  • DNA, Mitochondrial / genetics
  • Humans
  • Mitochondria* / genetics
  • Mitochondria* / metabolism
  • Mitochondrial Dynamics
  • Mitochondrial Proteins / metabolism
  • Mitophagy
  • Muscle, Skeletal / metabolism
  • Muscular Diseases* / metabolism
  • Oxidative Phosphorylation

Substances

  • Mitochondrial Proteins
  • DNA, Mitochondrial

Grants and funding

This research received no external funding.