Scientists have used high-performance liquid chromatography (HPLC) to determine the role certain variants of mitochondrial DNA (mtDNA) play in hearing loss.
In a study undertaken by a team at the National Tokyo Medical Center in Japan and published by BMC Medical Genetics, the scientists sought to embark on a systematic mutational analysis of mtDNA in Japanese patients with hearing loss.
Using HPLC, combined with direct sequencing and cloning-sequencing Japanese patients with either prelingual or postlingual sensorineral hearing loss were subjected to mutational analysis of mtDNA genes, namely 12S rRNA, tRNALeu(UUR), tRNASer(UCN), tRNALys, tRNAHis, tRNASer(AGY) and tRNAGlu.
The team identified 15 variants in 12S rRNA, as well as a homoplasmic m.7501A >G variant in tRNASer(UCN), while no variations were found in the other MtDNA.
As a result, the scientists suggested that the m.904C >T variant was a new candidate for hearing loss and, while unlikely to be pathogenic, the variant does require further study.
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