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Neurology 1999;52:1899
© 1999 American Academy of Neurology
Brief Communications

Molecular genetic analysis of the APEX nuclease gene in amyotrophic lateral sclerosis

Caroline Hayward, PhD, Shuna Colville, BSc, Robert J. Swingler, MD and David J. H. Brock, PhD

From the Human Genetics Unit (Drs. Hayward and Brock), Molecular Medicine Centre, University of Edinburgh, Western General Hospital, Edinburgh; and Department of Neurology (S. Colville and Dr. Swingler), Ninewells Hospital, Dundee, Scotland.

Address correspondence and reprint requests to Dr. Caroline Hayward, Human Genetics Unit, Molecular Medicine Centre, University of Edinburgh, Western General Hospital, Edinburgh, EH4 2XU, Scotland.

We analyzed genomic DNA from ALS patients for mutations in the apurinic/apyrimidinic endonuclease (APEX nuclease) gene. We identified three rare polymorphisms in the untranslated region of the gene and one common two-allele polymorphism (D148E). The allelic frequency D148E was significantly different in sporadic ALS patients compared with controls. A conserved amino acid change and a 4-base pair deletion were also identified in sporadic ALS patients. These data suggest that APEX nuclease may contribute to the etiology of ALS.




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