Carregant...
Fitxers
Tipus de document
ArticleVersió
Versió publicadaData de publicació
Llicència de publicació
Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/49184
A common BACE1 polymorphism is a risk factor for sporadic Creutzfeldt-Jakob disease
Títol de la revista
Director/Tutor
ISSN de la revista
Títol del volum
Recurs relacionat
Resum
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
Matèries (anglès)
Citació
Citació
CALERO, Olga, BULLIDO, María jesús, 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. A common BACE1 polymorphism is a risk factor for sporadic Creutzfeldt-Jakob disease. _PLoS One_. 2012. Vol. 7, núm. 8, pàgs. 1-6. [consulta: 25 de febrer de 2026]. ISSN: 1932-6203. [Disponible a: https://hdl.handle.net/2445/49184]