The role of mitochondrial tRNA^Phe 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.

• C628T variant
• deafness
• mitochondrial tRNA^Phe
• pathogenic

Declaration of interest

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the article.