Oxidative stress in inherited mitochondrial diseases

Genki Hayashi, Gino A Cortopassi

Research output: Contribution to journalArticlepeer-review

96 Scopus citations


Mitochondria are a source of reactive oxygen species (ROS). Mitochondrial diseases are the result of inherited defects in mitochondrially expressed genes. One potential pathomechanism for mitochondrial disease is oxidative stress. Oxidative stress can occur as the result of increased ROS production or decreased ROS protection. The role of oxidative stress in the five most common inherited mitochondrial diseases, Friedreich ataxia, LHON, MELAS, MERRF, and Leigh syndrome (LS), is discussed. Published reports of oxidative stress involvement in the pathomechanisms of these five mitochondrial diseases are reviewed. The strongest evidence for an oxidative stress pathomechanism among the five diseases was for Friedreich ataxia. In addition, a meta-analysis was carried out to provide an unbiased evaluation of the role of oxidative stress in the five diseases, by searching for "oxidative stress" citation count frequency for each disease. Of the five most common mitochondrial diseases, the strongest support for oxidative stress is for Friedreich ataxia (6.42%), followed by LHON (2.45%), MELAS (2.18%), MERRF (1.71%), and LS (1.03%). The increased frequency of oxidative stress citations was significant relative to the mean of the total pool of five diseases (p

Original languageEnglish (US)
Pages (from-to)10-17
Number of pages8
JournalFree Radical Biology and Medicine
StatePublished - Nov 1 2015


  • Free radicals
  • Friedreich ataxia
  • Inflammation
  • Leber hereditary optic neuropathy
  • Leigh syndrome
  • Mitochondrial disease
  • Neurodegeneration
  • Neuroinflammation
  • Oxidative stress

ASJC Scopus subject areas

  • Biochemistry
  • Physiology (medical)


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