Defective DNA single-strand break repair in spinocerebellar ataxia with axonal neuropathy-1

Sherif F. El-Khamisy, Gulam M. Saifi, Michael Weinfeld, Fredrik Johansson, Thomas Helleday, James R. Lupski and Keith W. Caldecott ()
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Sherif F. El-Khamisy: University of Sussex
Gulam M. Saifi: Baylor College of Medicine
Michael Weinfeld: Cross Cancer Institute
Fredrik Johansson: Stockholm University
Thomas Helleday: Stockholm University
James R. Lupski: Baylor College of Medicine
Keith W. Caldecott: University of Sussex

Nature, 2005, vol. 434, issue 7029, 108-113

Abstract: Ataxia cause identified An investigation into the molecular basis of the disease SCAN1 (spinocerebellar ataxia with axonal neuropathy-1) has identified for the first time a defect in the repair of chromosomal single-strand breaks in a neurodegenerative disease. The disease results from mutations in tyrosyl phosphodiesterase 1, but the known function of this enzyme — repairing double-strand breaks during replication — seemed unlikely to cause the observed pathology. The new study reveals a second function for the enzyme in human cells: repairing chromosome breaks caused by oxidative stress in post-mitotic neurons, and it is this that is likely to cause the symptoms of SCAN-1.

Date: 2005
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DOI: 10.1038/nature03314

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