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.
References
Feb 1, 1979·Annals of Neurology·C L MastersD M Asher
Jul 1, 1992·Research in Immunology·C R Abraham
Aug 22, 1991·Nature·C Weissmann
Feb 26, 1988·Cell·C R AbrahamH Potter
Oct 6, 1995·Cell·G C TellingS B Prusiner
Aug 1, 1995·Nature Genetics·M I KambohS T DeKosky
Dec 1, 1993·Proceedings of the National Academy of Sciences of the United States of America·K M PanF E Cohen
Oct 1, 1994·Human Genetics·M SalvatoreM Pocchiari
Jul 1, 1994·Journal of the Neurological Sciences·Y G XiM Pocchiari
Jan 1, 1994·Molecular Aspects of Medicine·M Pocchiari
Nov 3, 1994·Nature·J MaH Potter
Feb 1, 1994·Neurology·P BrownC Masullo
Oct 20, 1995·Neuroscience Letters·M SalvatoreM Pocchiari
Apr 6, 1996·Lancet·R G WillP G Smith
Sep 1, 1996·Human Genetics·O WindlJ Collinge
Sep 1, 1996·Neurology·P BarbantiM Pocchiari
Oct 1, 1996·Annals of Neurology·B NacmiasS Sorbi
Citations
Dec 18, 2013·Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia·Yunfei WeiChao Qin
Jan 20, 2007·Cancer Science·Ashraf A Khalil, Peter James
May 23, 2014·Journal of Korean Medical Science·Byung-Hoon Jeong, Yong-Sun Kim
Nov 17, 2017·Scientific Reports·S VanniG Legname
Jan 15, 2014·Molecular Biology Reports·Byung-Hoon JeongYong-Sun Kim