Belaidi Abdel Ali, Bush Ashley I, Ayton Scott
The Florey Institute of Neuroscience and Mental Health, Parkville, VIC, 3052, Australia.
The Florey Department of Neuroscience and Mental Health, University of Melbourne, Parkville, VIC, 3052, Australia.
Mol Neurodegener. 2025 Apr 24;20(1):47. doi: 10.1186/s13024-025-00843-y.
Apolipoprotein E (APOE- gene; apoE- protein) is the strongest genetic modulator of late-onset Alzheimer's disease (AD), with its three major isoforms conferring risk for disease ε2 < ε3 < ε4. Emerging protective gene variants, such as APOE Christchurch and the COLBOS variant of REELIN, an alternative target of certain apoE receptors, offer novel insights into resilience against AD. In recent years, the role of apoE has been shown to extend beyond its primary function in lipid transport, influencing multiple biological processes, including amyloid-β (Aβ) aggregation, tau pathology, neuroinflammation, autophagy, cerebrovascular integrity and protection from lipid peroxidation and the resulting ferroptotic cell death. While the detrimental influence of apoE ε4 on these and other processes has been well described, the molecular mechanisms underpinning this disadvantage require further enunciation, particularly to realize therapeutic opportunities related to apoE. This review explores the multifaceted roles of apoE in AD pathogenesis, emphasizing recent discoveries and translational approaches to target apoE-mediated pathways. These findings underscore the potential for apoE-based therapeutic strategies to prevent or mitigate AD in genetically at-risk populations.
载脂蛋白E(APOE基因;载脂蛋白E蛋白)是晚发型阿尔茨海默病(AD)最强的遗传调节因子,其三种主要异构体赋予疾病风险ε2<ε3<ε4。新兴的保护性基因变异,如APOE克赖斯特彻奇变异体和REELIN的COLBOS变异体(某些载脂蛋白E受体的另一个靶点),为抵抗AD的恢复力提供了新的见解。近年来,载脂蛋白E的作用已被证明超出其在脂质转运中的主要功能,影响多种生物学过程,包括淀粉样β蛋白(Aβ)聚集、tau病理、神经炎症、自噬、脑血管完整性以及免受脂质过氧化和由此导致的铁死亡细胞死亡的影响。虽然载脂蛋白E ε4对这些及其他过程的有害影响已得到充分描述,但支撑这种劣势的分子机制需要进一步阐明,特别是为了实现与载脂蛋白E相关的治疗机会。本综述探讨了载脂蛋白E在AD发病机制中的多方面作用,强调了最近的发现以及针对载脂蛋白E介导途径的转化方法。这些发现强调了基于载脂蛋白E的治疗策略在预防或减轻遗传高危人群AD方面的潜力。