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Title: A common BACE1 polymorphism is a risk factor for sporadic Creutzfeldt-Jakob disease
Author: Calero, Olga
Bullido, María J.
Clarimón, Jordi
Frank García, Ana
Martínez Martín, Pablo
Lleó Bisa, Alberto
Rey, María Jesús
Sastre, Isabel
Rábano, Alberto
Pedro Cuesta, Jesús de
Ferrer, Isidro (Ferrer Abizanda)
Calero, Miguel
Keywords: Malalties per prions
Metabolisme de proteïnes
Trastorns del metabolisme
Malaltia d'Alzheimer
Malaltia de Creutzfeldt-Jakob
Prion diseases
Protein metabolism
Disorders of metabolism
Alzheimer's disease
Creutzfeldt-Jakob disease
Issue Date: 30-Aug-2012
Publisher: Public Library of Science (PLoS)
Abstract: The β site APP cleaving enzyme 1 (BACE1) is the rate-limiting β-secretase enzyme in the amyloidogenic processing of APP and Aβ formation, and therefore it has a prominent role in Alzheimer"s disease (AD) pathology. Recent evidence suggests that the prion protein (PrP) interacts directly with BACE1 regulating its β-secretase activity. Moreover, PrP has been proposed as the cellular receptor involved in the impairment of synaptic plasticity and toxicity caused by Aβ oligomers. Provided that common pathophysiologic mechanisms are shared by Alzheimer"s and Creutzfeldt-Jakob (CJD) diseases, we investigated for the first time to the best of our knowledge a possible association of a common synonymous BACE1 polymorphism (rs638405) with sporadic CJD (sCJD). Our results indicate that BACE1 C-allele is associated with an increased risk for developing sCJD, mainly in PRNP M129M homozygous subjects with early onset. These results extend the very short list of genes (other than PRNP) involved in the development of human prion diseases; and support the notion that similar to AD, in sCJD several loci may contribute with modest overall effects to disease risk. These findings underscore the interplay in both pathologies of APP, Aβ oligomers, ApoE, PrP and BACE1, and suggest that aging and perhaps vascular risk factors may modulate disease pathologies in part through these key players
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It is part of: PLoS One, 2012, vol. 7, num. 8, p. 1-6
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ISSN: 1932-6203
Appears in Collections:Articles publicats en revistes (Patologia i Terapèutica Experimental)
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

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