Neurodegenerative Diseases Associated with Mitochondrial DNA Mutations

Curr Pharm Des. 2020;26(1):103-109. doi: 10.2174/1381612825666191122091320.

Abstract

Mitochondrial dysfunction underlies several human chronic pathologies, including cardiovascular disorders, cancers and neurodegenerative diseases. Impaired mitochondrial function associated with oxidative stress can be a result of both nuclear and mitochondrial DNA (mtDNA) mutations. Neurological disorders associated with mtDNA mutations include mitochondrial encephalomyopathy, chronic progressive external ophthalmoplegia, neurogenic weakness, and Leigh syndrome. Moreover, mtDNA mutations were shown to play a role in the development of Parkinson and Alzheimer's diseases. In this review, current knowledge on the distribution and possible roles of mtDNA mutations in the onset and development of various neurodegenerative diseases, with special focus on Parkinson's and Alzheimer's diseases has been discussed.

Keywords: DNA damage; Parkinson disease; alzheimer disease; mitochondria; neuropathy; oxidative stress; reactive oxygen species..

Publication types

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

MeSH terms

  • DNA, Mitochondrial / genetics*
  • Humans
  • Mitochondria / pathology
  • Mitochondrial Diseases / genetics*
  • Mutation*
  • Neurodegenerative Diseases / genetics*
  • Oxidative Stress

Substances

  • DNA, Mitochondrial