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Molecular Mechanisms of Cockayne Syndrome
Posted on 2010-05-11
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More Cockayne syndrome (CS) is a rare autosomal genetic disorder that was first identified almost 62 years ago by Alfred Cockayne and was named aft er him. The earliest publication record (PubMed) available is a paper by Marieetal in 1958.1 Since then 815 research papers including excellent reviews have been published (PubMed, December 2008), yet we are a long way from fully understanding the exact molecular mechanisms of this disease. Ironically, like many other inborn genetic defects, CS is still incurable; the mean life expectancy of the patients is 12.5 years.2 Major milestones in the study of CS were the discovery that the patients have a defect in DNA repair,3 the identification of the two complementation groups CSA and CSB,4 and the fi nding that CS cells were defective in the specialized pathway of nucleotide excision repair, transcriptional-coupled repair (TCR), that removes certain lesions from actively transcribed DNA.5 There are numerous variations in the clinical features exhibited by sufferers of CS and related syndromes, and they are fully explored in Chapter 1 by Malcolm Taylor. Although only two genes CSA and CSB have been directly associated with CS, a large number of physical and physiological disorders can be observed in the patients.... or
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