Novel hearing loss genes identified

Novel hearing loss genes identified in mice

Novel hearing loss genes identified

12 Oct 2017 - 10:05

About our study

  • By testing over 3,000 mouse genes, researchers have identified 52 genes that are critical for hearing
  • Deafness affects 5% of the world’s population and some of the causes are genetic
  • Understanding the genetic causes of deafness will improve diagnosis and counselling of patients.

12 October, Hinxton – 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. According to the study, published in Nature Communications, the newly discovered genes could provide insights into the causes of hearing loss in humans.

Hearing impairment is the most common sensory deficit, with over 360 million people worldwide currently living with mild to profound hearing loss. “Hearing loss can often be traced to genetic causes, so identifying genes linked to the condition helps researchers understand it better,” explains Terry Meehan, Mouse Informatics Coordinator at EMBL-EBI and paper author.

What did they find?

This study, performed by collaborators in the International Mouse Phenotyping Consortium, tested 3,006 strains of ‘knock-out’ mice for signs of hearing loss. ‘Knock-out’ mice have one gene from their genome inactivated, which helps researchers to uncover the functions of that gene.

“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.

The knock-out mice tested so far in this study represented only about 15% of mouse genes, so the researchers estimate that if the entire genome is searched there will be at least 450 genes required for hearing function.

Why does it matter?

“In the future, we could envision the creation of a catalogue of genes related to hearing loss,” continues Meehan. “Doctors could test for these genes in people with hearing loss and use the results to make more informed healthcare decisions.”

Find out more

Find out more about hearing related phenotypes present in mouse lines produced by IMPC.

The IMPC is assigning physiological functions to all genes by generating and phenotyping a ‘knock-out’ mouse for every gene in the mouse genome. The data generated by the project has resulted in a series of papers including papers on embryonic development, sexual dimorphism and disease models.

Source article

BOWL, M.R., et al. (2017). A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction. Nature Communications. Published online 12 October; DOI: 10.1038/s41467-017-00595-4

IMPC news story

You can also read more about this on the IMPC website.

Contact the news team

Oana Stroe
Communications Officer
stroe@ebi.ac.uk
+44 (0)1223 494 369

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