线粒体氨基酰-tRNA合成酶基因变异所致遗传性疾病的研究进展  

Progress of research on the genetic diseases caused by variants of mitochondrial aminoacyl-tRNA synthase gene

作　　者：赵祥月 郁婷婷[1] 王剑[1] Zhao Xiangyue;Yu Tingting;Wang Jian(Department of Genetic and Molecular Diagnosis,Shanghai Children′s Medical Center,Medical School of Shanghai Jiaotong University,Shanghai 200127,China)

机构地区：[1]上海交通大学医学院附属上海儿童医学中心遗传分子诊断科,上海200127

出　　处：《中华医学遗传学杂志》2022年第12期1424-1428,共5页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金(82171849)。

摘　　要：氨基酰-tRNA合成酶是一类细胞内普遍表达的具有重要功能的保守酶,包括胞质氨基酰-tRNA合成酶、线粒体氨基酰-tRNA合成酶以及双功能型tRNA合成酶。其中线粒体氨基酰-tRNA合成酶在线粒体内催化氨基酸与相对应的tRNA结合,生成氨基酰-tRNA,参与线粒体基因组编码的13种氧化磷酸化复合物亚基的翻译。编码线粒体氨基酰-tRNA合成酶的基因发生变异可导致多种遗传性疾病。本文就线粒体氨基酰-tRNA合成酶基因变异所致遗传病的临床表型特点、分子发病机制研究进展及治疗探索进行综述。As conserved enzymes with important functions,aminoacyl-tRNA synthetase are expressed ubiquitously in cells.These include cytoplasmic aminoacyl-tRNA synthetase,mitochondrial aminoacyl-tRNA synthetase and bifunctional aminoacyl-tRNA synthetase.Mitochondrial aminoacyl-tRNA synthetases catalyze the binding of amino acids with its corresponding tRNA in the mitochondria and participate in the translation of 13 subunits of oxidative phosphorylation enzyme complexes encoded by the mitochondrial genome.Mutations in genes encoding mitochondrial aminoacyl-tRNA synthase may cause a variety of genetic disorders.This review has summarized the clinical characteristics,molecular pathogenesis and treatment of genetic diseases caused by mutations of such genes.

关 键 词：氨基酰-TRNA合成酶 线粒体 变异 遗传性疾病 

分 类 号：R596[医药卫生—内科学]