Clinical Neurochemistry Unit and Biobank, IRCCS Santa Lucia Foundation, Via Ardeatina, 306/354, 00179 Rome, Italy.
European Center for Brain Research, Via del Fosso del Fiorano, 00143 Rome, Italy.
Genes (Basel). 2024 Oct 30;15(11):1397. doi: 10.3390/genes15111397.
Apolipoprotein E ( = gene, ApoE = protein) is a glycoprotein involved in the biological process of lipid transportation and metabolism, contributing to lipid homeostasis. APOE has been extensively studied for its correlation with neurodegenerative diseases, in particular Alzheimer's disease (AD), where the possession of the epsilon 4 (E4) allele is established as a risk factor for developing AD in non-familiar sporadic forms. Recently, evidence suggests a broad involvement of E4 also in other neurological conditions, where it has been shown to be a predictive marker for worse clinical outcomes in Parkinson's disease (PD), brain trauma, and disturbances of consciousness. The mechanisms underlying these associations are complex and involve amyloid-β (Aβ) peptide accumulation and neuroinflammation, although many others have yet to be identified.
The aim of this review is to overview the current knowledge on ApoE as a non-protagonist actor in processes underlying neurodegenerative diseases and its clinical significance in AD, PD, acquired brain trauma, and Disorders of Consciousness (DoC). Ethical implications of genetic testing for APOE variants and information disclosure will also be briefly discussed.
载脂蛋白 E（=基因，ApoE=蛋白）是一种参与脂质运输和代谢的生物过程的糖蛋白，有助于脂质平衡。APOE 因其与神经退行性疾病，特别是阿尔茨海默病（AD）的相关性而被广泛研究，在非家族性散发性形式中，携带 ε4（E4）等位基因被确定为 AD 发病的危险因素。最近，有证据表明 E4 也广泛参与其他神经疾病，在这些疾病中，它已被证明是帕金森病（PD）、脑外伤和意识障碍的更差临床结果的预测标志物。这些关联的机制很复杂，涉及淀粉样β（Aβ）肽的积累和神经炎症，尽管还有许多其他机制尚未确定。
本综述的目的是概述载脂蛋白 E 作为神经退行性疾病相关过程中的非主要参与者的最新知识，以及其在 AD、PD、获得性脑外伤和意识障碍（DoC）中的临床意义。还将简要讨论针对 APOE 变体进行基因检测的伦理影响和信息披露。
