MassGeneral Institute for Neurodegenerative Disease, Massachusetts General Hospital and Harvard Medical School, Charlestown, MA 02129, USA.
Sci Transl Med. 2013 Nov 20;5(212):212ra161. doi: 10.1126/scitranslmed.3007000.
Inheritance of the ε4 allele of apolipoprotein E (APOE) is the strongest genetic risk factor associated with the sporadic form of Alzheimer's disease (AD), whereas the rare APOE ε2 allele has the opposite effect. However, the mechanisms whereby APOE confers risk and protection remain uncertain. We used a gene transfer approach to bathe the cortex of amyloid plaque-bearing transgenic mice with virally expressed human APOE. We monitored amyloid-β (Aβ) with multiphoton imaging, in vivo microdialysis, and postmortem array tomography to study the kinetics of human APOE-mediated changes in Aβ-related neurotoxicity in a mouse model of AD. We observed that human APOE4 increased the concentrations of oligomeric Aβ within the interstitial fluid and exacerbated plaque deposition; the converse occurred after exposure to human APOE2. Peri-plaque synapse loss and dystrophic neurites were also worsened by APOE4 or attenuated by APOE2. Egress of Aβ from the central nervous system (CNS) into the plasma was diminished by APOE3 and APOE4 compared to APOE2, in accord with isoform-specific retention of Aβ in the CNS. Overall, our data show a differential effect of human APOE isoforms on amyloid deposition and clearance in transgenic mice and, more importantly, on Aβ-mediated synaptotoxicity. These results suggest that the APOE genetic risk is mediated by Aβ, and that therapeutic approaches aimed at decreasing APOE4, or increasing APOE2, may be beneficial in AD.
载脂蛋白 E(APOE)的 ε4 等位基因遗传是与散发性阿尔茨海默病(AD)相关的最强遗传风险因素,而罕见的 APOE ε2 等位基因则具有相反的作用。然而,APOE 赋予风险和保护的机制仍不确定。我们使用基因转移方法,用病毒表达的人 APOE 对载脂蛋白 E 转基因小鼠的皮质进行“沐浴”。我们通过多光子成像、体内微透析和死后阵列断层扫描来监测淀粉样蛋白-β(Aβ),以研究 AD 小鼠模型中人类 APOE 介导的 Aβ 相关神经毒性变化的动力学。我们观察到,人 APOE4 增加了细胞外间隙中寡聚 Aβ 的浓度,并加剧了斑块沉积;而暴露于人 APOE2 后则相反。APOE4 导致斑块周围突触丢失和神经突变形加剧,而 APOE2 则减轻了这种情况。与 APOE2 相比,APOE3 和 APOE4 减少了 Aβ 从中枢神经系统(CNS)到血浆的流出,这与 CNS 中 Aβ 的同种型特异性保留一致。总的来说,我们的数据显示了人类 APOE 异构体对转基因小鼠中淀粉样蛋白沉积和清除的差异影响,更重要的是,对 Aβ 介导的突触毒性的影响。这些结果表明,APOE 遗传风险是由 Aβ 介导的,旨在降低 APOE4 或增加 APOE2 的治疗方法可能对 AD 有益。