Schmechel D E, Saunders A M, Strittmatter W J, Crain B J, Hulette C M, Joo S H, Pericak-Vance M A, Goldgaber D, Roses A D
Department of Medicine (Neurology), Duke University Medical Center, Durham, NC 27710.
Proc Natl Acad Sci U S A. 1993 Oct 15;90(20):9649-53. doi: 10.1073/pnas.90.20.9649.
Amyloid beta-peptide (A beta) deposition in senile plaques and cerebral vessels is a neuropathological feature of Alzheimer disease (AD). We examined the possibility that commonly observed variability in A beta deposition in late-onset AD might be related to apolipoprotein E genotype (APOE gene; the two most common alleles are 3 and 4), since APOE4 is a susceptibility gene for late-onset AD and apolipoprotein E interacts strongly with A beta in vitro. In an autopsy series of brains of late-onset AD patients, we found a strong association of APOE4 allele with increased vascular and plaque A beta deposits. Late-onset AD patients with one or two APOE4 alleles have a distinct neuropathological phenotype compared with patients homozygous for APOE3.
淀粉样β肽（Aβ）在老年斑和脑血管中的沉积是阿尔茨海默病（AD）的神经病理学特征。我们研究了晚发性AD中常见的Aβ沉积变异性可能与载脂蛋白E基因型（APOE基因；两种最常见的等位基因是3和4）相关的可能性，因为APOE4是晚发性AD的易感基因，并且载脂蛋白E在体外与Aβ强烈相互作用。在一组晚发性AD患者的脑尸检系列中，我们发现APOE4等位基因与血管和斑块Aβ沉积增加密切相关。与APOE3纯合子患者相比，携带一个或两个APOE4等位基因的晚发性AD患者具有独特的神经病理学表型。
