NR AJLH
AU Pickering-Brown,S.M.; Mann,D.M.A.; Owen,F.; Ironside,J.W.; de Silva,R.N.; Roberts,D.A.; Balderson,D.J.; Cooper,P.N.
TI Allelic variations in apolipoprotein E and prion protein genotype related to plaque formation and age of onset in sporadic Creutzfeldt-Jakob disease
QU Neuroscience Letters 1995 Mar 3; 187(2): 127-9
PT journal article
AB Prion gene sequence is thought to affect the phenotypic expression of prion disease and the E2 variant of apolipoprotein E (Apo E) can be neuroprotective in dementia. We determined codon 129 of the prion gene and the Apo E variants in Creutzfeldt-Jakob disease (CJD) using PCR and restriction digest. We found a significant correlation between valine at codon 129 of the prion protein gene and the presence of plaque in CJD and a later age of onset in CJD cases possessing the Apo E2 allele. This study provides further evidence that sequence variations in the prion gene can modify disease pathology and the neuroprotection afforded by Apo E2 is not confined to Alzheimer's disease.
IN Die Autoren sehen eine Korrelation zwischen Valin an der Position 129 des Prionproteins und der Anwesenheit von Plaques bei Creutzfeldt-Jakob-Kranken, sowie zwischen der Apolipoprotein E2-Variante und einem höheren Erkrankungsalter.
ZR 22
MH Age of Onset; Aged; *Alleles; Apolipoproteins E/*genetics; Creutzfeldt-Jakob Syndrome/*genetics/*pathology; Female; Genotype; Human; Male; Middle Age; Polymerase Chain Reaction; Polymorphism (Genetics); Prions/*genetics; Support, Non-U.S. Gov't
AD S.M. Pickering-Brown, Frank Owen, David J. Roberts, David J. Balderson, Division of Neuroscience, School of Biological Sciences, University of Manchester, Stopford Building 1124, Oxford Rd, Manchester M13 9PT, Lancs, UK; D. M. A. Mann, Department of Pathological Science, University of Manchester, Stopford Building 1124, Oxford Rd, Manchester M13 9PT, Lancs, UK; James W. Ironside, Rajith de Silva, National Creutzfeldt-Jakob Disease Surveillance Unit, Western General Hospital, Crewe Road, Edinburgh, EH4 2XU, UK; Paul N. Cooper, Walton Centre for Neurology and Neurosurgery, Rice Lane, Liverpool, L9 1AE, UK
SP englisch
PO Irland