Conceptual developments in the causes of Cockayne syndrome

Mech Ageing Dev. May-Jun 2013;134(5-6):284-90. doi: 10.1016/j.mad.2013.02.005. Epub 2013 Feb 18.


Cockayne syndrome is an autosomal recessive disease that covers a wide range of symptoms, from mild photosensitivity to severe neonatal lethal disorder. The pathology of Cockayne syndrome may be caused by several mechanisms such as a DNA repair deficiency, transcription dysregulation, altered redox balance and mitochondrial dysfunction. Conceivably each of these mechanisms participates during a different stage in life of a Cockayne syndrome patient. Endogenous reactive oxygen is considered as an ultimate cause of DNA damage that contributes to Cockayne syndrome pathology. Here we demonstrate that mitochondrial reactive oxygen does not cause detectable nuclear DNA damage. This observation implies that a significant component of Cockayne syndrome pathology may be due to abnormal mitochondrial function independent of nuclear DNA damage. The source of nuclear DNA damage to central nervous system tissue most likely occurs from extrinsic neurotransmitter signaling.

Publication types

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

MeSH terms

  • Animals
  • Cell Nucleus / genetics
  • Cell Nucleus / metabolism
  • Cell Nucleus / pathology
  • Central Nervous System / metabolism
  • Central Nervous System / pathology
  • Cockayne Syndrome* / genetics
  • Cockayne Syndrome* / metabolism
  • Cockayne Syndrome* / pathology
  • DNA Damage*
  • DNA Repair*
  • Humans
  • Mitochondria* / genetics
  • Mitochondria* / metabolism
  • Mitochondria* / pathology
  • Reactive Oxygen Species / metabolism*
  • Synaptic Transmission / genetics
  • Transcription, Genetic*


  • Reactive Oxygen Species