载脂蛋白E和朊蛋白基因型的等位基因变异与散发性克雅氏病的斑块形成及发病年龄相关。

Allelic variations in apolipoprotein E and prion protein genotype related to plaque formation and age of onset in sporadic Creutzfeldt-Jakob disease.

作者信息

Pickering-Brown S M, Mann D M, Owen F, Ironside J W, de Silva R, Roberts D A, Balderson D J, Cooper P N

机构信息

Division of Neuroscience, School of Biological Sciences, University of Manchester, UK.

出版信息

Neurosci Lett. 1995 Mar 3;187(2):127-9. doi: 10.1016/0304-3940(95)11353-3.

DOI:10.1016/0304-3940(95)11353-3

PMID:7783958

Abstract

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.

摘要

朊病毒基因序列被认为会影响朊病毒疾病的表型表达，而载脂蛋白E（Apo E）的E2变体在痴呆症中可能具有神经保护作用。我们使用聚合酶链反应（PCR）和限制性酶切分析法测定了克雅氏病（CJD）中朊病毒基因的第129密码子及Apo E变体。我们发现，朊病毒蛋白基因第129密码子处的缬氨酸与CJD中斑块的存在以及携带Apo E2等位基因的CJD病例发病年龄较晚之间存在显著相关性。这项研究提供了进一步的证据，表明朊病毒基因的序列变异可改变疾病病理，并且Apo E2提供的神经保护作用并不局限于阿尔茨海默病。