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。

abstractsAs 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.