title: Polymorphism at codon 174 of the prion-like protein gene is not associated with sporadic Alzheimer's disease.
abstract: Alzheimer's disease (AD) and prion diseases are associated with the occurrence of protein aggregates called amyloid fibrils, containing the amyloid-beta peptide in AD, and a modified form (PrP(Sc)) of the normal cellular prion protein (PrP(c)) in prion diseases. PrP(c) is encoded by the prion protein gene, and a common polymorphism at codon 129 of this gene is a determinant of susceptibility to acquired and sporadic prion diseases but not for sporadic AD. A recently identified novel protein, named Doppel, shares biochemical and structural homology with PrP(c). Preliminary evidence in a German population indicates that a polymorphism at codon 174 of the prion-like protein (PRND) gene encoding for Doppel protein is a predisposing factor for both prion diseases and sporadic AD. A case-control study utilizing a clinically well-defined group of 283 sporadic AD patients and 288 control subjects was performed to test this association. The current study does not demonstrate any significant difference in T174M PRND genotype or allele frequencies between AD patients and controls. Our study in the Spanish population argues against the hypothesis that the PRND gene is causally related to AD.
authors.affiliation: Service of Neurology, University Hospital Marqués de Valdecilla, University of Cantabria, 39008 Santander, Spain.
authors.forename: Jon
authors.initials: J
authors.lastname: Infante
authors.forename: Javier
authors.initials: J
authors.lastname: Llorca
authors.forename: Lucía
authors.initials: L
authors.lastname: Rodero
authors.forename: Enrique
authors.initials: E
authors.lastname: Palacio
authors.forename: José
authors.initials: J
authors.lastname: Berciano
authors.forename: Onofre
authors.initials: O
authors.lastname: Combarros
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D000544:Alzheimer Disease / Q000453:epidemiology / Q000235:genetics*; D001057:Apolipoproteins E / Q000235:genetics; D003062:Codon / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic / Q000235:genetics*; D018620:PrPSc Proteins / Q000235:genetics*; D013030:Spain / Q000453:epidemiology
chemical_list: D001057:Apolipoproteins E; D003062:Codon; D018620:PrPSc Proteins