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Investigation of Unexplored Genetic Landscape by WHO

(H)ear up!

Hearing impairment is the most common sensory deficit in the human population. According to figures from the World Health Organisation, there are currently around 360 million people worldwide living with mild to profound hearing loss.

We are far from having a complete understanding of the genetics underlying hearing function.

To date, around two-thirds of the genes for non-syndromic hearing loss loci are known, and, while the causative genes for several of the well-known hearing loss syndromes have been identified, the vast majority of genes underlying syndromes with hearing loss are unknown.

Now, researchers from the Medical Research Council (MRC) Harwell Institute and the European Bioinformatics Institute (EMBL-EBI) have found 52 previously unidentified genes that are critical for hearing, by testing more than 3,000 mouse genes.

The study, published in Nature Communications, has the consortium testing 3,006 strains of knockout mice for signs of hearing loss.

Knockout mice have one gene from their genome inactivated, which helps researchers to uncover the functions of that gene. The IMPC aims to generate a knockout mouse for every gene in the mouse genome.

Importantly, the large number of novel hearing loss genes identified in this study demonstrates that there are many more genes involved in deafness in mouse and human genomes than we had previously realised,

” said Professor Steve Brown, senior author on the paper and Director of MRC Harwell.

They identified 67 genes that were associated with hearing loss, of which 52 had not been previously linked with hearing loss. The genes identified varied in how they affected hearing – effects ranged from mild to severe hearing loss or resulted in difficulties at lower or higher frequencies.

Testing these genes in people with hearing loss may help to improve diagnosis and counseling of patients,” Brown said. “The next steps will be to determine the role that each of the proteins encoded by these genes has within the auditory system.

Scientists hope further investigation will reveal cellular functions critical to hearing- processes that can serve as targets for therapy.

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