Department of Neurology, Alzheimer's Disease Research Center, Hope Center for Neurological Disorders, Washington University School of Medicine, St. Louis, Missouri 63110, USA.
Cold Spring Harb Perspect Med. 2012 Mar;2(3):a006312. doi: 10.1101/cshperspect.a006312.
Apolipoprotein E (APOE) genotype is the major genetic risk factor for Alzheimer disease (AD); the ε4 allele increases risk and the ε2 allele is protective. In the central nervous system (CNS), apoE is produced by glial cells, is present in high-density-like lipoproteins, interacts with several receptors that are members of the low-density lipoprotein receptor (LDLR) family, and is a protein that binds to the amyloid-β (Aβ) peptide. There are a variety of mechanisms by which apoE isoform may influence risk for AD. There is substantial evidence that differential effects of apoE isoform on AD risk are influenced by the ability of apoE to affect Aβ aggregation and clearance in the brain. Other mechanisms are also likely to play a role in the ability of apoE to influence CNS function as well as AD, including effects on synaptic plasticity, cell signaling, lipid transport and metabolism, and neuroinflammation. ApoE receptors, including LDLRs, Apoer2, very low-density lipoprotein receptors (VLDLRs), and lipoprotein receptor-related protein 1 (LRP1) appear to influence both the CNS effects of apoE as well as Aβ metabolism and toxicity. Therapeutic strategies based on apoE and apoE receptors may include influencing apoE/Aβ interactions, apoE structure, apoE lipidation, LDLR receptor family member function, and signaling. Understanding the normal and disease-related biology connecting apoE, apoE receptors, and AD is likely to provide novel insights into AD pathogenesis and treatment.
载脂蛋白 E (APOE) 基因型是阿尔茨海默病 (AD) 的主要遗传风险因素;ε4 等位基因增加风险,ε2 等位基因具有保护作用。在中枢神经系统 (CNS) 中,载脂蛋白 E 由神经胶质细胞产生,存在于高密度脂蛋白样脂蛋白中,与几种属于低密度脂蛋白受体 (LDLR) 家族的受体相互作用,并且是与淀粉样蛋白-β (Aβ) 肽结合的蛋白质。载脂蛋白 E 异构体可能通过多种机制影响 AD 的风险。有大量证据表明,载脂蛋白 E 异构体对 AD 风险的影响因载脂蛋白 E 影响大脑中 Aβ聚集和清除的能力而异。其他机制也可能在载脂蛋白 E 影响中枢神经系统功能以及 AD 的能力中发挥作用,包括对突触可塑性、细胞信号转导、脂质转运和代谢以及神经炎症的影响。载脂蛋白 E 受体,包括 LDLR、Apoer2、极低密度脂蛋白受体 (VLDLR) 和脂蛋白受体相关蛋白 1 (LRP1),似乎既影响载脂蛋白 E 的 CNS 作用,也影响 Aβ 代谢和毒性。基于载脂蛋白 E 和载脂蛋白 E 受体的治疗策略可能包括影响载脂蛋白 E/Aβ 相互作用、载脂蛋白 E 结构、载脂蛋白 E 脂质化、LDLR 受体家族成员功能和信号转导。了解连接载脂蛋白 E、载脂蛋白 E 受体和 AD 的正常和疾病相关生物学可能为 AD 发病机制和治疗提供新的见解。