Hermans Stefan J, Nero Tracy L, Morton Craig J, Gooi Jonathan H, Crespi Gabriela A N, Hancock Nancy C, Gao Chen, Ishii Kenta, Markulić Jasmina, Parker Michael W
Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, 30 Flemington Road, Parkville, Victoria 3010 Australia.
Structural Biology, St. Vincent's Institute of Medical Research, 9 Princes Street, Victoria 3065 Fitzroy, Australia.
Biophys Rev. 2021 Nov 18;14(1):233-255. doi: 10.1007/s12551-021-00903-9. eCollection 2022 Feb.
Alzheimer's disease is a common and devastating age-related disease with no effective disease-modifying treatments. Human genetics has implicated a wide range of cell surface receptors as playing a role in the disease, many of which are involved in the production or clearance of neurotoxins in the brain. Amyloid precursor protein, a membrane-bound signaling molecule, is at the very heart of the disease: hereditary mutations in its gene are associated with a greatly increased risk of getting the disease. A proteolytic breakdown product of amyloid precursor protein, the neurotoxic Aβ peptide, has been the target for many drug discovery efforts. Antibodies have been designed to target Aβ production with some success, although they have not proved efficacious in clinical trials with regards to cognitive benefits to date. Many of the recently identified genes associated with late-onset Alzheimer's disease risk are integral to the innate immune system. Some of these genes code for microglial proteins, such as the strongest genetic risk factor for the disease, namely APOE, and the cell surface receptors CD33 and TREM2 which are involved in clearance of the Aβ peptide from the brain. In this review, we show how structural biology has provided key insights into the normal functioning of these cell surface receptors and provided a framework for developing novel treatments to combat Alzheimer's disease.
阿尔茨海默病是一种常见且具有毁灭性的与年龄相关的疾病,目前尚无有效的疾病修饰治疗方法。人类遗传学研究表明,多种细胞表面受体在该疾病中发挥作用,其中许多受体参与大脑中神经毒素的产生或清除。淀粉样前体蛋白是一种膜结合信号分子,处于该疾病的核心位置:其基因中的遗传性突变与患该病的风险大幅增加有关。淀粉样前体蛋白的一种蛋白水解分解产物——神经毒性Aβ肽,一直是许多药物研发工作的靶点。尽管到目前为止,在临床试验中这些抗体尚未被证明对认知功能有明显益处,但人们已设计出针对Aβ产生的抗体并取得了一定成功。许多最近发现的与晚发型阿尔茨海默病风险相关的基因是先天性免疫系统的组成部分。其中一些基因编码小胶质细胞蛋白,例如该疾病最强的遗传风险因素APOE,以及参与从大脑中清除Aβ肽的细胞表面受体CD33和TREM2。在这篇综述中,我们展示了结构生物学如何为这些细胞表面受体的正常功能提供关键见解,并为开发对抗阿尔茨海默病的新疗法提供了框架。