Mitochondrial deficiency in Cockayne syndrome

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.

► Increasing evidence suggests a role of mitochondria in the pathogenesis of Cockayne syndrome group. ► Altered mitochondrial base excision repair, transcription or autophagy may play a role in the mitochondrial dysfunction. ► Nuclear–mitochondrial cross-talk defects could also play a role in the mitochondrial phenotype in Cockayne syndrome.