1. The role of mitochondrial tRNAPhe C628T variant in deafness expression.
- Author
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Zhu, Qingzhang, Zhou, Yuanfeng, Jin, Xiaoping, and Lin, Xianfang
- Subjects
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MITOCHONDRIAL RNA , *TRANSFER RNA , *GENETIC mutation , *GENETICS of deafness , *PHYLOGENY - 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-tRNAPhe 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-tRNAPhe gene with and without this variant. Intriguingly, the C628T variant was not evolutionary conserved and had little effect on mt-tRNAPhe 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. [ABSTRACT FROM AUTHOR]
- Published
- 2015
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