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Mutations in the open reading frame of the beta-site APP cleaving enzyme (BACE) locus are not a common cause of Alzheimer's disease

Nicolaou, M., Song, Y-Q., Sato, C. A., Orlacchio, A., Kawarai, T., Medeiros, Helena, Liang, Y., Sorbi, S., Richard, E., Rogaev, E. I., Moliaka, Y, Bruni, A. C., Jorge, R., Percy, M., Duara, R., Farrer, L. A., St George-Hyslop, P. and Rogaeva, E. A. (2001) Mutations in the open reading frame of the beta-site APP cleaving enzyme (BACE) locus are not a common cause of Alzheimer's disease. Neurogenetics, 3 (4). pp. 203-206. ISSN 1364-6745

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Abstract

Amyloid β-peptide (Aβ) plays a central role in the pathogenesis of Alzheimer's disease (AD). The gene encoding the β-site APP cleaving enzyme (BACE), one of two enzymes that sequentially cleave the β-amyloid precursor protein to generate Aβ, has recently been cloned. We tested the hypothesis that BACE might be genetically associated with AD by linkage analysis (56 pedigrees), by direct nucleotide sequencing of the entire open reading frame (20 subjects with familial AD, and 10 subjects with sporadic AD) and by allelic association analysis (155 AD cases and 173 non-demented controls). Our results revealed no evidence for either genetic linkage or allelic association between BACE and AD, and no coding sequence mutations were detected in the open reading frame of the BACE gene. These data suggest that while BACE protein plays an important role in the pathogenesis of AD, and may be a robust therapeutic target, it is unlikely to be a major AD susceptibility locus.

Item Type: Article
Official URL: http://www.springerlink.com/content/101172/
Additional Information: © 2001 Springer
Library of Congress subject classification: R Medicine > RC Internal medicine
Sets: Research centres and groups > Personal Social Services Research Unit (PSSRU)
Rights: http://www.lse.ac.uk/library/usingTheLibrary/academicSupport/OA/depositYourResearch.aspx
Date Deposited: 12 Nov 2008 13:52
URL: http://eprints.lse.ac.uk/15159/

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