| 摘要: |
| 早老素（presenilin，PS）是在家族性早发型阿尔茨海默病中发现的一种跨膜蛋白，主要表达于细胞膜和细胞器膜上。PS作为γ-分泌酶的重要组成部分，参与细胞内多种蛋白的调控。近年研究发现在扩张型心肌病中存在PS基因突变，并且发现PS基因对心脏的形成及心肌细胞中钙稳态的调控具有重要作用。本文综述了PS在心脏中的作用以及PS可能影响心肌细胞钙稳态的相关机制，后者包括β-淀粉样蛋白、1，4，5-三磷酸肌醇受体、Ryanodine受体、钙泵等，为家族性扩张型心肌病的研究提供参考。 |
| 关键词: 早老素类 扩张型心肌病 淀粉样前体蛋白 钙 γ-分泌酶 |
| DOI：10.16781/j.0258-879x.2017.01.0097 |
| 投稿时间：2016-09-18修订日期：2016-11-30 |
| 基金项目: |
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| Presenilins in dilated cardiomyopathy: an update |
| YUAN Qing-ning,YANG Yong-ji,LEI Chang-hai* |
(Department of Biophysics, College of Basic Medical Sciences, Second Military Medical University, Shanghai 200433, China
*Corresponding author) |
| Abstract: |
| Presenilin (PS) is a transmembrane protein identified in familial early-onset Alzheimer disease, and it is mainly expressed in cell membranes and organelle membranes. As an important catalytic core of the γ-secretase multimeric enzyme complex, PS has been implicated in regulating various proteins. Recent researches have shown that mutations in PS are identified in the familial dilated cardiomyopathy, and the PS gene plays an important role in cardiac formation and regulation of calcium homeostasis in myocardial cells. In this review, we summarized the function of PS in heart and the mechanisms underlying the effects of PS on calcium homeostasis, such as amyloid β protein (Aβ), 1,4,5-inositol trisphosphate receptors, ryanodine receptors and PS as endoplasmic reticulum (ER) Ca2+ leak channels, hoping to provide a theoretical basis for the therapy of dilated cardiomyopathy. |
| Key words: presenilins dilated cardiomyopathy amyloid precusor protein calcium γ-secretase |
