Mitochondrial dysfunction in some oxidative stress-related genetic diseases: Ataxia-Telangiectasia, Down Syndrome, Fanconi Anaemia and Werner Syndrome

Biogerontology. 2010 Aug;11(4):401-19. doi: 10.1007/s10522-010-9269-4. Epub 2010 Mar 18.

Abstract

Oxidative stress is a phenotypic hallmark in several genetic disorders characterized by cancer predisposition and/or propensity to premature ageing. Here we review the published evidence for the involvement of oxidative stress in the phenotypes of Ataxia-Telangiectasia (A-T), Down Syndrome (DS), Fanconi Anaemia (FA), and Werner Syndrome (WS), from the viewpoint of mitochondrial dysfunction. Mitochondria are recognized as both the cell compartment where energetic metabolism occurs and as the first and most susceptible target of reactive oxygen species (ROS) formation. Thus, a critical evaluation of the basic mechanisms leading to an in vivo pro-oxidant state relies on elucidating the features of mitochondrial impairment in each disorder. The evidence for different mitochondrial dysfunctions reported in A-T, DS, and FA is reviewed. In the case of WS, clear-cut evidence linking human WS phenotype to mitochondrial abnormalities is lacking so far in the literature. Nevertheless, evidence relating mitochondrial dysfunctions to normal ageing suggests that WS, as a progeroid syndrome, is likely to feature mitochondrial abnormalities. Hence, ad hoc research focused on elucidating the nature of mitochondrial dysfunction in WS pathogenesis is required. Based on the recognized, or reasonably suspected, role of mitochondrial abnormalities in the pathogenesis of these disorders, studies of chemoprevention with mitochondria-targeted supplements are warranted.

Publication types

  • Review

MeSH terms

  • Aging / physiology
  • Animals
  • Ataxia Telangiectasia / genetics
  • Ataxia Telangiectasia / physiopathology*
  • Down Syndrome / genetics
  • Down Syndrome / physiopathology*
  • Fanconi Anemia / genetics
  • Fanconi Anemia / physiopathology*
  • Hepatocytes / ultrastructure
  • Humans
  • Mitochondria / physiology*
  • Oxidative Stress*
  • Reactive Oxygen Species / metabolism
  • Werner Syndrome / genetics
  • Werner Syndrome / physiopathology*

Substances

  • Reactive Oxygen Species