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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.
AuthorsZhiyi Luo
JournalMitochondrial DNA. Part A, DNA mapping, sequencing, and analysis (Mitochondrial DNA A DNA Mapp Seq Anal) Vol. 27 Issue 2 Pg. 1137-40 ( 2016) ISSN: 2470-1408 [Electronic] England
PMID24983150 (Publication Type: Journal Article)
Chemical References
  • RNA, Mitochondrial
  • RNA, Ribosomal
  • RNA, Transfer, Arg
  • RNA, ribosomal, 12S
  • RNA
Topics
  • Cell Line
  • Deafness (genetics, metabolism)
  • Gene Expression Regulation
  • Humans
  • Point Mutation
  • RNA (genetics, metabolism)
  • RNA, Mitochondrial
  • RNA, Ribosomal (biosynthesis, genetics)
  • RNA, Transfer, Arg (genetics, metabolism)

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