title: Alpha1 antichymotrypsin signal peptide polymorphism in sporadic Creutzfeldt-Jakob disease.
abstract: In Creutzfeldt-Jakob disease (CJD), a transmissible spongiform encephalopathy, the deposition of the pathological prion protein (PrP-res) in the brain of affected individuals is the key event that triggers the appearance of the disease. Since a polymorphism in the signal peptide of the serine-protease inhibitor alpha1 antichymotrypsin (ACT) is one of the factors that may enhance amyloid formation, we studied this polymorphism in 63 CJD patients and 103 control subjects. No difference in allele frequencies and genotype distribution was found between CJD cases and controls, nor any difference was found between the ACT genotype and the age at onset and disease duration. Interestingly, there was a significantly different (P = 0.04) ACT distribution between CJD patients and controls in apolipoprotein E (ApoE) E4, and the interaction between ACT and ApoE was almost significant (P = 0.053). Further studies on a larger number of patients will clarify whether this association can identify a possible risk factor for CJD.
authors.affiliation: Laboratory of Virology, Istituto Superiore di Sanita, Rome, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Salvatore
authors.forename: A C
authors.initials: AC
authors.lastname: Seeber
authors.forename: B
authors.initials: B
authors.lastname: Nacmias
authors.forename: R
authors.initials: R
authors.lastname: Petraroli
authors.forename: S
authors.initials: S
authors.lastname: Sorbi
authors.forename: M
authors.initials: M
authors.lastname: Pocchiari
mesh_terms: D000328:Adult; D053327:Apolipoprotein E4; D001057:Apolipoproteins E / Q000235:genetics; D007562:Creutzfeldt-Jakob Syndrome / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D011110:Polymorphism, Genetic / Q000235:genetics*; D000514:alpha 1-Antichymotrypsin / Q000235:genetics*
chemical_list: D053327:Apolipoprotein E4; D001057:Apolipoproteins E; D000514:alpha 1-Antichymotrypsin