Alpha1 antichymotrypsin signal peptide polymorphism in sporadic Creutzfeldt-Jakob disease.
Neurosci Lett
; 227(2): 140-2, 1997 May 16.
Article
in En
| MEDLINE
| ID: mdl-9180223
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.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Polymorphism, Genetic
/
Alpha 1-Antichymotrypsin
/
Creutzfeldt-Jakob Syndrome
Type of study:
Prognostic_studies
/
Risk_factors_studies
Limits:
Adult
/
Female
/
Humans
/
Male
Language:
En
Journal:
Neurosci Lett
Year:
1997
Document type:
Article