Cockayne Syndrome is an autosomal recessive genetic condition caused by a mutation in either the ERCC6 gene (DNA translocation CSB) or the ERCC8 gene (codes for ubiquitin ligase). Both the ERCC6 and ERCC8 genes are responsible for repairing large sections of DNA that have usually been damaged by overexposure to UV light. The mutation means that damaged DNA accumulates, leading to eventual cell death. Sufferers of the disease are usually characterised by premature ageing, small stature, photosensitivity, organ degeneration and neurological diseases. Cockayne Syndrome can still express symptoms even in patients where there is no significant DNA damage. It is thought that the CSB genes are involved in the normal transcription of neuronal genes, therefore depletion in CSB will affect the normal levels of differentiation of neuronal cells.
Cockayne Syndrome can be classified into different types- 1, 2 and 3. Patients are classified into one of the three groups depending on the severity of the symptoms and the age the syndrome became apparent. However, there are no clear definitions of these classifications as there is a disease spectrum.
- ↑ Yuming Wanga, Probir Chakravartyb, Michael Ranesa, Gavin Kellyb, Philip J. Brooksc, Edward Neiland, Aengus Stewartb, Giampietro Schiavoe, and Jesper Q. Svejstrupa. (1990). The genetic defect in Cockayne syndrome is associated with a defect in repair of UV-induced DNA damage in transcriptionally active DNA. Proceedings of the National Academy of Sciences of the United States of America. 87 (12), 4707-4711
- ↑ Genetics Home Reference. Cockayne Syndrome (Internet). 2017 (Cited;26/10/17). Available from: https://ghr.nlm.nih.gov/condition/cockayne-syndrome#sourcesforpage