title: Mitochondrial tRNAArg T10454C variant may not influence the clinical expression of deafness associated 12S rRNA A1555G mutation.
abstract: In this study, we examined the "pathogenic" role of the T10454C mutation in mitochondrial tRNA(Arg) gene in deafness expression as increasing reports provided an active role of this mutation in clinical manifestation of deafness associated 12S rRNA A1555G mutation. For this purpose, we reanalyzed the complete mitochondrial DNA (mtDNA) sequence data containing the T10454C mutation. Moreover, we analyzed the reported "polymorphisms" of mtDNA in the proband using the phylogentic approach. To our surprise, other mutations which occurred at protein-coding genes played more important roles in resulting mitochondrial dysfunctions by using the bioinformatic tool. In addition, evolutionary conservation analysis of the T10454C mutation indicated that this mutation was not conserved between different species. To our knowledge, this is the first report that the T10454C variant may not modulate the phenotypic expression of the deafness associated A1555G mutation.
authors: a Department of the Emergency Center , The First Affiliated Hospital of Zhengzhou University , Zhengzhou , China.
authors: Zhiyi
authors: Z
authors: Luo
mesh_terms: D002460:Cell Line; D003638:Deafness / Q000235:genetics / Q000378:metabolism; D005786:Gene Expression Regulation; D006801:Humans; D017354:Point Mutation; D012313:RNA / Q000235:genetics / Q000378:metabolism; D000077278:RNA, Mitochondrial; D012335:RNA, Ribosomal / Q000096:biosynthesis / Q000235:genetics; D012347:RNA, Transfer, Arg / Q000235:genetics / Q000378:metabolism
chemical_list: D000077278:RNA, Mitochondrial; D012335:RNA, Ribosomal; D012347:RNA, Transfer, Arg; C075526:RNA, ribosomal, 12S; D012313:RNA
keywords: Clinical phenotypic; T10454C mutation; deafness; mt-tRNAArg