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TDP1-dependent DNA single-strand break repair and neurodegeneration

2006; Oxford University Press; Volume: 21; Issue: 4 Linguagem: Inglês

10.1093/mutage/gel024

1464-3804

Sherif F. El‐Khamisy, Keith W. Caldecott,

Mitochondrial Function and Pathology

DNA single-strand breaks (SSBs) are the commonest DNA lesions that arise spontaneously in living cells. Cells employ efficient processes for the rapid repair of these breaks and defects in these processes appear to preferentially impact on the nervous system, causing human ataxia. Spinocerebellar ataxia with axonal neuropathy (SCAN1) is a human disease that is associated with a defect in repairing certain types of SSBs. Although it is a rare neurodegenerative disease, understanding the molecular basis of SCAN1 will lead to better understanding of the mechanisms that underpin not only neurodegeneration but also cancer.