Allelic variations in apolipoprotein E and prion protein genotype related to plaque formation and age of onset in sporadic Creutzfeldt-Jakob disease
作者: Stuart M. Pickering-BrownDavid M.A. MannFrank OwenJames W. IronsideRajith de SilvaDavid A. RobertsDavid J. BaldersonPaul N. Cooper
作者单位: 1Division of Neuroscience, School of Biological Sciences, University of Manchester, Stopford Building 1.124, Oxford Road, Manchester, M13 9PT, UK
2Department of Pathological Sciences, University of Manchester, Stopford Building, Oxford Road, Manchester, M13 9PT, UK
3National Creutzfeldt-Jakob Disease Surveillance Unit, Western General Hospital, Crewe Road, Edinburgh, EH4 2XU, UK
4Walton Centre for Neurology and Neurosurgery, Rice Lane, Liverpool, L9 1AE, UK
刊名: Neuroscience Letters, 1995, Vol.187 (2), pp.127-129
来源数据库: Elsevier Journal
DOI: 10.1016/0304-3940(95)11353-3
关键词: PrionAmyloid plaqueApolipoprotein ECreutzfeldt-Jakob diseaseNeuroprotection
原始语种摘要: Abstract(#br)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.
全文获取路径: Elsevier  (合作)
影响因子:2.026 (2012)