title: The role of mitochondrial tRNAPhe C628T variant in deafness expression.
abstract: Mutations in mitochondrial genome are one of the most important causes of hearing loss, of these, mitochondrial tRNA (mt-tRNA) genes are the hot spots for mutations associated with deafness. Most recently, a novel mt-tRNA(Phe) C628T variant has been reported to be associated with non-syndromic and sensorineural hearing loss. To test this association, we characterized the C628T variant using a phylogenetic approach; in addition, we employed the bioinformatics tool to predict the thermodynamic change of the mt-tRNA(Phe) gene with and without this variant. Intriguingly, the C628T variant was not evolutionary conserved and had little effect on mt-tRNA(Phe) folding. Moreover, through the application of the pathogenicity scoring system, we classified the C628T variant as a "neutral polymorphism", suggesting that this variant currently lacked sufficient evident to support as a "pathogenic" mutation.
authors.affiliation: Taizhou Hospital of Zhejiang Province, Wenzhou Medical University , Linhai , People's Republic of China.
authors.forename: Qingzhang
authors.initials: Q
authors.lastname: Zhu
authors.forename: Yuanfeng
authors.initials: Y
authors.lastname: Zhou
authors.forename: Xiaoping
authors.initials: X
authors.lastname: Jin
authors.forename: Xianfang
authors.initials: X
authors.lastname: Lin
mesh_terms: D000483:Alleles; D001483:Base Sequence; D019295:Computational Biology; D030561:Databases, Nucleic Acid; D003638:Deafness / Q000175:diagnosis / Q000235:genetics*; D019143:Evolution, Molecular; D015870:Gene Expression; D050259:Genes, Mitochondrial; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D054629:Genome, Mitochondrial; D006801:Humans; D009154:Mutation; D009690:Nucleic Acid Conformation; D010802:Phylogeny; D012313:RNA / Q000737:chemistry / Q000235:genetics*; D000077278:RNA, Mitochondrial; D012360:RNA, Transfer, Phe / Q000737:chemistry / Q000235:genetics*; D013816:Thermodynamics
chemical_list: D000077278:RNA, Mitochondrial; D012360:RNA, Transfer, Phe; D012313:RNA
keywords: C628T variant; deafness; mitochondrial tRNAPhe; pathogenic