《生命科学》 2020, 32(8): 763-772

氨基酰-tRNA合成酶与神经系统疾病

李　光^1,2 , 周小龙^1,2,* , 王恩多^1,2,3,*

¹中国科学院分子细胞科学卓越创新中心/生物化学与细胞生物学研究所，分子生物学国家重点实验室， 上海 200031 ²中国科学院大学，北京 100864 ³上海科技大学生命科学与技术学院，上海 201210

摘　要：

氨基酰-tRNA合成酶(aminoacyl-tRNA synthetase, aaRS) 催化tRNA 氨基酰化反应与编校反应，合成正确的氨基酰-tRNA，为蛋白质生物合成提供原料。高等生物的aaRS 获得了除蛋白质合成之外的非经典功能。近年来，随着基因组测序和外显子测序技术的发展和新增临床病例的发现，aaRS 基因突变被报道与
多种神经系统疾病相关。该文将简要介绍已报道的与aaRS 基因突变相关的神经系统疾病，并总结aaRS 基
因突变导致神经系统疾病机制的研究进展；还将讨论神经系统疾病模型在aaRS 非经典功能研究和新药设
计中的潜在应用。

通讯作者：周小龙 , Email:xlzhou@sibcb.ac.cn 王恩多 , Email:edwang@sibcb.ac.cn

Aminoacyl-tRNA synthetase in neuropathy

LI Guang^1,2 , ZHOU Xiao-Long^1,2,* , WANG En-Duo^1,2,3,*

¹State Key Laboratory of Molecular Biology, CAS Center for Excellence in Molecular Cell Science, Shanghai Institute of Biochemistry and Cell Biology, Chinese Academy of Sciences, Shanghai 200031, China ²University of Chinese Academy of Sciences, Beijing 100864, Chi ³School of Life Science and Technology, Shanghai Tech University, Shanghai 201210, China

Abstract:

Aminoacyl-tRNA synthetase (aaRS) supplies material for protein biosynthesis by catalyzing both the formation of correct aminoacyl-tRNA and editing process. AaRS from higher eukaryotes acquired non-canonical functions beyond translation. With the development of genome sequencing, whole-exome sequencing and increasing cases reported, mutations of aaRS genes are correlated with multiple neuropathies. In this review, we will briefly introduce the reported neuropathy cases correlated with aaRS gene mutations, and summarize the mechanism of aaRS gene mutations in neuropathy. The potential applications of neuropathy cases in research of aaRS’s noncanonical functions and in novel drug design are also reviewed here.

Communication Author：ZHOU Xiao-Long , Email:xlzhou@sibcb.ac.cn WANG En-Duo , Email:edwang@sibcb.ac.cn