Advance of research on endoplasmic reticulum stress and genetic epilepsy.

Author: Xiaohang JIANG ¹ ; Yi SUI ; Jiaqi ZHANG ; Tong YI ; Yanyan ZHAO ; Xiaoliang LIU
Author Information

1. Department of Clinical Medicine Ⅲ, Shengjing Hospital of China Medical University, Shenyang, Liaoning 110004, China. liuxl@sj-hospital.org.
Publication Type:Journal Article
MeSH: Humans; Endoplasmic Reticulum Stress/genetics*; Unfolded Protein Response; Endoplasmic Reticulum/pathology*; Apoptosis; Epilepsy/genetics*
From: Chinese Journal of Medical Genetics 2023;40(6):756-761
CountryChina
Language:Chinese
Abstract: 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.