Mitochondrial deficiency in Cockayne syndrome

Mech Ageing Dev. May-Jun 2013;134(5-6):275-83. doi: 10.1016/j.mad.2013.02.007. Epub 2013 Feb 19.


Cockayne syndrome is a rare inherited disorder characterized by accelerated aging, cachectic dwarfism and many other features. Recent work has implicated mitochondrial dysfunction in the pathogenesis of this disease. This is particularly interesting since mitochondrial deficiencies are believed to be important in the aging process. In this review, we discuss recent findings of mitochondrial pathology in Cockayne syndrome and suggest possible mechanisms for the mitochondrial dysfunction.

Publication types

  • Research Support, N.I.H., Intramural
  • Review

MeSH terms

  • Animals
  • Cockayne Syndrome* / genetics
  • Cockayne Syndrome* / metabolism
  • Cockayne Syndrome* / pathology
  • Cockayne Syndrome* / physiopathology
  • Humans
  • Mitochondria* / genetics
  • Mitochondria* / metabolism
  • Mitochondria* / pathology
  • Mitochondrial Diseases* / genetics
  • Mitochondrial Diseases* / metabolism
  • Mitochondrial Diseases* / pathology
  • Mitochondrial Diseases* / physiopathology