内质网应激与遗传性癫痫的研究进展  

Advance of research on endoplasmic reticulum stress and genetic epilepsy

作　　者：姜骁航 隋艺 张佳琦 易彤 赵彦艳[2] 刘晓亮[2] Jiang Xiaohang;Sui Yi;Zhang Jiaqi;Yi Tong;Zhao Yanyan;Liu Xiaoliang(Department of Clinical MedicineⅢ,Shengjing Hospital of China Medical University,Shenyang Liaoning,110004 China;Department of Clinical Genetics,Shengjing Hospital of China Medical University,Shenyang,Liaoning 110004,China)

机构地区：[1]中国医科大学附属盛京医院临床三系,沈阳110004 [2]中国医科大学附属盛京医院临床遗传科,沈阳110004

出　　处：《中华医学遗传学杂志》2023年第6期756-761,共6页Chinese Journal of Medical Genetics

基　　金：国家重点研发计划(2021YFC1005300、2021YFC1005304);辽宁省自然科学基金(2022-MS-208);中国医科大学大学生创新创业训练计划(202210159014)。

摘　　要：癫痫是一组以反复痫性发作,即神经元异常同步放电,导致短暂性大脑功能障碍为特征的慢性疾病,其发病与多种机制有关。近年来,内质网应激逐渐被认识为癫痫发生的新的病理生理学机制。内质网应激通过未折叠蛋白反应,提升内质网的蛋白质加工能力,抑制蛋白质翻译,促进错误折叠蛋白质经由泛素-蛋白酶体系统降解,旨在恢复蛋白质稳态,而持续性内质网应激则可能导致神经元细胞凋亡和丢失,加剧脑损伤和癫痫。本文对内质网应激与遗传性癫痫的发病机制的研究进展进行了综述。Epilepsies are a group of chronic neurological disorders characterized by spontaneous recurrent seizures caused by abnormal synchronous firing of neurons and transient brain dysfunction.The underlying mechanisms are complex and not yet fully understood.Endoplasmic reticulum(ER)stress,as a condition of excessive accumulation of unfolded and/or misfolded proteins in the ER lumen,has been considered as a pathophysiological mechanism of epilepsy in recent years.ER stress can enhance the protein processing capacity of the ER to restore protein homeostasis through unfolded protein response,which may inhibit protein translation and promote misfolded protein degradation through the ubiquitin-proteasome system.However,persistent ER stress can also cause neuronal apoptosis and loss,which may aggravate the brain damage and epilepsy.This review has summarized the role of ER stress in the pathogenesis of genetic epilepsy.

关 键 词：内质网应激 未折叠蛋白反应 泛素-蛋白酶体系统 癫痫 

分 类 号：R742.1[医药卫生—神经病学与精神病学]