早老素蛋白 2 相关家族性阿尔茨海默病基因座的研究进展及其与早老素蛋白 1 的关系
A Review of the Familial Alzheimer's Disease Locus PRESENILIN 2 and Its Relationship to PRESENILIN 1.
机构信息
Alzheimer's Disease Genetics Laboratory, Centre for Molecular Pathology, School of Biological Sciences, University of Adelaide, Adelaide, SA, Australia.
Department of Neurology, University of Washington, Seattle, WA, USA.
出版信息
J Alzheimers Dis. 2018;66(4):1323-1339. doi: 10.3233/JAD-180656.
PRESENILIN 1 (PSEN1) and PRESENILIN 2 (PSEN2) genes are loci for mutations causing familial Alzheimer's disease (fAD). However, the function of these genes and how they contribute to fAD pathogenesis has not been fully determined. This review provides a summary of the overlapping and independent functions of the PRESENILINS with a focus on the lesser studied PSEN2. As a core component of the γ-secretase complex, the PSEN2 protein is involved in many γ-secretase-related physiological activities, including innate immunity, Notch signaling, autophagy, and mitochondrial function. These physiological activities have all been associated with AD progression, indicating that PSEN2 plays a particular role in AD pathogenesis.
早老素 1（PSEN1）和早老素 2（PSEN2）基因是引起家族性阿尔茨海默病（fAD）突变的基因位点。然而，这些基因的功能以及它们如何导致 fAD 发病机制尚未完全确定。本综述提供了 PRESENILINS 重叠和独立功能的概述，重点介绍了研究较少的 PSEN2。作为 γ-分泌酶复合物的核心组成部分，PSEN2 蛋白参与许多 γ-分泌酶相关的生理活动，包括先天免疫、Notch 信号转导、自噬和线粒体功能。这些生理活动都与 AD 的进展有关，这表明 PSEN2 在 AD 的发病机制中起着特殊的作用。
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