Mitochondrial genome changes and neurodegenerative diseases

Milena Pinto, Carlos T. Moraes

Research output: Contribution to journalReview articlepeer-review

44 Scopus citations


Mitochondria are essential organelles within the cell where most of the energy production occurs by the oxidative phosphorylation system (OXPHOS). Critical components of the OXPHOS are encoded by the mitochondrial DNA (mtDNA) and therefore, mutations involving this genome can be deleterious to the cell. Post-mitotic tissues, such as muscle and brain, are most sensitive to mtDNA changes, due to their high energy requirements and non-proliferative status. It has been proposed that mtDNA biological features and location make it vulnerable to mutations, which accumulate over time. However, although the role of mtDNA damage has been conclusively connected to neuronal impairment in mitochondrial diseases, its role in age-related neurodegenerative diseases remains speculative. Here we review the pathophysiology of mtDNA mutations leading to neurodegeneration and discuss the insights obtained by studying mouse models of mtDNA dysfunction. This article is part of a Special Issue entitled: Misfolded Proteins, Mitochondrial Dysfunction, and Neurodegenerative Diseases.

Original languageEnglish (US)
Pages (from-to)1198-1207
Number of pages10
JournalBiochimica et Biophysica Acta - Molecular Basis of Disease
Issue number8
StatePublished - Aug 2014


  • Encephalopathy
  • Mitochondrion
  • MtDNA

ASJC Scopus subject areas

  • Molecular Biology
  • Molecular Medicine


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