氨基酰-tRNA合成酶与神经系统疾病  

Aminoacyl-tRNA synthetase in neuropathy

作　　者：李光 周小龙 王恩多 LI Guang;ZHOU Xiao-Long;WANG En-Duo(State 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;University of Chinese Academy of Sciences,Beijing 100864,China;School of Life Science and Technology,Shanghai Tech University,Shanghai 201210,China)

机构地区：[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

出　　处：《生命科学》2020年第8期763-772,共10页Chinese Bulletin of Life Sciences

基　　金：国家重点研发计划项目(2017YFA0504000);国家自然科学基金项目(91440204,31500644,31570792,31822015,81870896,31670801);中科院先导B项目(XDB19010203)。

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。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.

关 键 词：氨基酰-TRNA合成酶 蛋白质合成 非经典功能 神经系统 线粒体 

分 类 号：Q559[生物学—生物化学] R741[医药卫生—神经病学与精神病学]