异亮氨酰-tRNA合成酶基因变异的研究进展  

Progress in the study of recobinant isoleucinyl-tRNA synthetase gene variants

作　　者：蒋劲嵩 高景波 郭荣 曹桂芝 郭敏[1] 赵晨玥 张莉雪 薛慧琴 JIANG Jinsong;GAO Jingbo;GUO Rong;CAO Guizhi;GUO Min;ZHAO Chenyue;ZHANG Lixue;XUE Huiqin(College of Pediatrics,Children’s Hospital of Shanxi Medical University,Shanxi Province,Taiyuan030001,China;Department of Cytogenetics,Children’s Hospital of Shanxi,Women Health Center of Shanxi,Shanxi Province,Taiyuan030013,China)

机构地区：[1]山西医科大学附属儿童医院儿科医学院,山西太原030001 [2]山西省儿童医院(山西省妇幼保健院)细胞遗传室,山西太原030013

出　　处：《中国医药导报》2023年第33期63-66,共4页China Medical Herald

基　　金：国家人口与生殖健康科学数据中心工程项目(SJPT-03-16);山西省卫生健康委员会重点实验室建设项目(2021SYS24);山西省卫生健康委员会资助项目(2023016)。

摘　　要：异亮氨酰-t RNA合成酶(IARS)催化异亮氨酸和特异t RNA结合并调控蛋白质合成,还可以调节细胞内的信号传导通路并参与细胞内的代谢过程。在动物和人体中IARS基因变异均十分少见,其变异后导致的IARS缺乏是一种罕见的常染色体隐性遗传病,会出现严重的发育迟缓,智力发育受损,肌张力低下和肝功能异常等多系统病变,且IARS基因变异后的特定氨基酸治疗也成为当下的研究热点。本文对该领域的研究进展进行综述,以期总结归纳IARS基因变异后的相关表型,阐明基因型与表型的关联及可能的发病机制,对其病因学研究提供参考。Recobinant isoleucyl-tRNA synthetase(IARS)catalyzes isoleucine and specific tRNA to bind and regulate protein synthesis,and also regulates intracellular signaling pathways and participates in intracellular metabolic processes.IARS gene variation is very rare in animals and humans.The deficiency of IARS caused by IARS mutation is a rare autosomal recessive genetic disease,resulting in severe developmental delay,impaired intellectual development,hypotonia,and abnormal liver function.And the specific amino acid therapy after IARS gene mutation has also become a current research hotspot.This article reviews the research progress in this field,with a view to summarizing the phenotypes associated with IARS gene variation,clarifying the association between genotype and phenotype,and the possible pathogenesis,and providing references for the etiology research.

关 键 词：异亮氨酰-tRNA合成酶基因变异 发育迟缓 智力低下 肝功能异常 

分 类 号：R742.1[医药卫生—神经病学与精神病学]