title: Search for difference in aminoacylation of mitochondrial DNA-encoded wild-type and mutant human tRNALeu (UUR).
abstract: The pathogenetic mechanism of the most extensively investigated A3243G mutated tRNALeu(UUR) gene, which causes the MELAS encephalomyopathy, maternally inherited diabetes, or chronic progressive external ophlthalmoplegia, is still unresolved, despite the numerous investigations on the topic. Previous evidences presented in published work suggested that the mitochondrial DNA harboring A3243G mutation result decreases in the rates of mitochondrial protein synthesis. To search for differences in aminoacylation of mitochondrial DNA-encoded wild-type and mutant human tRNALeu(UUR), we have expressed and purified the two kinds of tRNAsLeu(UUR), and have expressed human mitochondrial leucyl-tRNA synthetase for in vitro assays of aminoacylation of wild-type and mutant human tRNALeu(UUR). The results indicate human mitochondrial tRNALeu(UUR) gene A3243G point mutant can remarkably reduce its aminoacylation, suggesting it could be one of the mechanisms that the mutation can produce in such clinical phenotypes.
authors.affiliation: State Key Laboratory of Molecular Biology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai 200031, People's Republic of China.
authors.forename: Zhen-Cheng
authors.initials: ZC
authors.lastname: Wang
authors.forename: Xue-Min
authors.initials: XM
authors.lastname: Wang
authors.forename: You-Xin
authors.initials: YX
authors.lastname: Jin
authors.forename: Bing-Hua
authors.initials: BH
authors.lastname: Jiao
authors.forename: Feng
authors.initials: F
authors.lastname: Xu
authors.forename: Ming-Yong
authors.initials: MY
authors.lastname: Miao
authors.forename: Ke-Jun
authors.initials: KJ
authors.lastname: Zhu
mesh_terms: D000215:Acylation; D004272:DNA, Mitochondrial / Q000235:genetics*; D006801:Humans; D007700:Kinetics; D017354:Point Mutation; D012356:RNA, Transfer, Leu / Q000235:genetics / Q000378:metabolism*; D014158:Transcription, Genetic
chemical_list: D004272:DNA, Mitochondrial; D012356:RNA, Transfer, Leu