Progress of research on the genetic diseases caused by variants of mitochondrial aminoacyl-tRNA synthase gene.
10.3760/cma.j.cn511374-20211015-00817
- Author:
Xiangyue ZHAO
1
;
Tingting YU
;
Jian WANG
Author Information
1. Department of Genetic and Molecular Diagnosis, Shanghai Children's Medical Center, Medical School of Shanghai Jiaotong University, Shanghai 200127, China. labwangjian@shsmu.edu.cn.
- Publication Type:Journal Article
- MeSH:
Humans;
RNA, Transfer, Amino Acyl;
Genes, Mitochondrial;
Amino Acyl-tRNA Synthetases/genetics*;
Genome, Mitochondrial;
Mitochondria/genetics*
- From:
Chinese Journal of Medical Genetics
2022;39(12):1424-1428
- CountryChina
- Language:Chinese
-
Abstract:
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.
