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448856 occurrences (No.37 in the rank) during 5 years in the PubMed. [no cache] 500 found
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448856 occurrences (No.37 in the rank) during 5 years in the PubMed. [no cache] 500 found
| 264) 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. |
| PMID:24021014 DOI:10.3109/19401736.2013.823192 |
| 2015 Mitochondrial DNA |
| * The role of mitochondrial tRNAPhe C628T variant in deafness expression. |
| - 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. |
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