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载脂蛋白E-ε2与阿尔茨海默病:基因型影响病理表型。

Apolipoprotein E-epsilon 2 and Alzheimer's disease: genotype influences pathologic phenotype.

作者信息

Lippa C F, Smith T W, Saunders A M, Hulette C, Pulaski-Salo D, Roses A D

机构信息

Department of Neurology, Allegheny University-East Falls, Philadelphia, PA 12129, USA.

出版信息

Neurology. 1997 Feb;48(2):515-9. doi: 10.1212/wnl.48.2.515.

DOI:10.1212/wnl.48.2.515
PMID:9040748
Abstract

To determine whether apolipoprotein E epsilon 2 (APOE-epsilon 2) affects neuropathology in aging and Alzheimer's disease (AD), we compared beta-amyloid plaque (A beta P) and neurofibrillary tangle densities, neuropil thread formation, and amyloid angiopathy in five APOE-epsilon 2/3 AD patients, five APOE-epsilon 3/3 AD patients, five APOE-epsilon control patients, and five APOE-epsilon 3/3 control patients. We examined the (frontal and parietal) neocortex, hippocampus, entorhinal cortex, and cerebellum and found A beta P densities to be lower (t = 3.121, p = 0.011) in the cortex of APOE-epsilon 2/3 AD patients than in APOE-epsilon 3/3 AD patients. Amyloid angiopathy was also less in APOE-epsilon 2/3 patients than in APOE-3/3 patients (U = 4.500, p = 0.027). Control APOE-epsilon 2/3 brains had little AD-related pathology; even our 102-year-old control case showed few A beta Ps compared with the elderly APOE-epsilon 3/3 cases. The APOE-epsilon 2/3 genotype may influence pathologic phenotype in some aged normal and AD populations.

摘要

为了确定载脂蛋白Eε2(APOE-ε2)是否影响衰老和阿尔茨海默病(AD)中的神经病理学,我们比较了5例APOE-ε2/3 AD患者、5例APOE-ε3/3 AD患者、5例APOE-ε对照患者和5例APOE-ε3/3对照患者的β淀粉样蛋白斑块(AβP)和神经原纤维缠结密度、神经毡丝形成以及淀粉样血管病情况。我们检查了(额叶和顶叶)新皮质、海马体、内嗅皮质和小脑,发现APOE-ε2/3 AD患者皮质中的AβP密度低于APOE-ε3/3 AD患者(t = 3.121,p = 0.011)。APOE-ε2/3患者的淀粉样血管病也比APOE-3/3患者少(U = 4.500,p = 0.027)。对照APOE-ε2/3大脑几乎没有与AD相关的病理学改变;甚至我们102岁的对照病例与老年APOE-ε3/3病例相比,AβP也很少。APOE-ε2/3基因型可能在一些老年正常和AD人群中影响病理表型。

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