Massachusetts General Hospital, Harvard Medical School, 114 16th Street, Charlestown, MA 02129, USA.
Brain. 2012 Jul;135(Pt 7):2155-68. doi: 10.1093/brain/aws127. Epub 2012 May 26.
The apolipoprotein E ε4 gene is the most important genetic risk factor for sporadic Alzheimer's disease, but the link between this gene and neurodegeneration remains unclear. Using array tomography, we analysed >50000 synapses in brains of 11 patients with Alzheimer's disease and five non-demented control subjects and found that synapse loss around senile plaques in Alzheimer's disease correlates with the burden of oligomeric amyloid-β in the neuropil and that this synaptotoxic oligomerized peptide is present at a subset of synapses. Further analysis reveals apolipoprotein E ε4 patients with Alzheimer's disease have significantly higher oligomeric amyloid-β burden and exacerbated synapse loss around plaques compared with apolipoprotein E ε3 patients. Apolipoprotein E4 protein colocalizes with oligomeric amyloid-β and enhances synaptic localization of oligomeric amyloid-β by >5-fold. Biochemical characterization shows that the amyloid-β enriched at synapses by apolipoprotein E4 includes sodium dodecyl sulphate-stable dimers and trimers. In mouse primary neuronal culture, lipidated apolipoprotein E4 enhances oligomeric amyloid-β association with synapses via a mechanism involving apolipoprotein E receptors. Together, these data suggest that apolipoprotein E4 is a co-factor that enhances the toxicity of oligomeric amyloid-β both by increasing its levels and directing it to synapses, providing a link between apolipoprotein E ε4 genotype and synapse loss, a major correlate of cognitive decline in Alzheimer's disease.
载脂蛋白 E ε4 基因是散发性阿尔茨海默病最重要的遗传风险因素,但该基因与神经退行性变之间的联系仍不清楚。我们使用数组断层成像技术分析了 11 名阿尔茨海默病患者和 5 名非痴呆对照者大脑中的 >50000 个突触,发现阿尔茨海默病患者中围绕老年斑的突触丢失与神经突中寡聚淀粉样β蛋白的负担有关,而这种突触毒性寡聚肽存在于一部分突触中。进一步的分析表明,与载脂蛋白 E ε3 患者相比,载脂蛋白 E ε4 阿尔茨海默病患者的寡聚淀粉样β蛋白负担更高,斑块周围的突触丢失更严重。载脂蛋白 E4 蛋白与寡聚淀粉样β蛋白共定位,并使寡聚淀粉样β蛋白在突触中的定位增加了>5 倍。生化特征表明,载脂蛋白 E4 在突触处富集的淀粉样β蛋白包括十二烷基硫酸钠稳定的二聚体和三聚体。在小鼠原代神经元培养物中,脂蛋白载脂蛋白 E4 通过涉及载脂蛋白 E 受体的机制增强寡聚淀粉样β与突触的结合。综上所述,这些数据表明,载脂蛋白 E4 是一种辅助因子,通过增加其水平并将其引导至突触,增强了寡聚淀粉样β的毒性,从而将载脂蛋白 E ε4 基因型与阿尔茨海默病中认知能力下降的主要相关突触丢失联系起来。