Multiple new genes involved in hearing loss have been revealed in a huge study of mouse mutants by researchers from the Wellcome Sanger Institute and King’s College London, and colleagues. The new genes reveal the metabolic pathways and regulatory processes involved in hearing.
The study, published in the open-access journal PLOS Biology, helps to understand the underlying biology of deafness, and also provides a rich source of therapeutic targets for the restoration of hearing.
Progressive hearing loss with age is extremely common in the population, leading to difficulties in understanding speech, increased social isolation and associated depression. It can often be inherited, but so far very little is known about the molecular pathways leading to hearing loss, hampering the development of treatments.
To identify new molecules involved in hearing loss, the researchers took a genetic approach and created 1,211 new mouse mutants. They screened each of these mice using a sensitive electrophysiological test, the auditory brainstem response, to find out how good their hearing was.
This large-scale screen of targeted mouse mutants identified 38 genes involved in hearing loss in the mice, which had not been previously suspected to be involved in hearing.
The researchers also analysed human DNA data* to ask if any of these 38 genes discovered in mice were associated with human adult-onset hearing loss. They found 11 of these 38 genes were significantly associated with hearing ability in the UK population. Furthermore one gene, SPNS2, was associated with childhood deafness.
Some of these genes revealed molecular pathways that may be useful targets for drug development.