MOLECULAR NEUROSCIENCEPolymorphism in the BACE gene influences the risk for Alzheimer's diseaseKirschling, Chartika M; Kölsch, Heike; Frahnert, Christine; Rao, Marie Luise; Maier, Wolfgang; Heun, Reinhard Author Information Department of Psychiatry, University of Bonn, Sigmund-Freud-Str. 25, 53105 Bonn, GermanyCACorresponding Author: [email protected] Received 3 April 2003; accepted 1 May 2003 NeuroReport: July 1, 2003 - Volume 14 - Issue 9 - p 1243-1246 Buy Abstract Pathological characteristics of Alzheimer's disease (AD) are neurofibrillary tangles and amyloid-β (Aβ) plaques. Aβ is generated by cleavage of the amyloid precursor protein by β- and γ-secretases. BACE (beta-site APP cleaving enzyme) was identified as the β-secretase. Variations of the BACE gene might influence activity and function of the protein and, thus, might influence the pathogenesis of AD. Consequently, we investigated the association of different BACE polymorphisms with AD. BACE exon 5 polymorphism influenced the risk of AD. This effect was most pronounced in apolipoprotein E4 allele carriers. Furthermore, Aβ42 CSF levels were influenced by BACE genotype. It appears that BACE polymorphism plays a more important role in the development of AD than previously assumed, possibly by influencing Aβ42 levels. © 2003 Lippincott Williams & Wilkins, Inc.
