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Extended loss of hair bundles [coloured pink] revealed by scanning electron microscope (left), resulting in hearing loss. Credit: Wellcome Sanger Institute.
Many new genes involved in hearing loss have been revealed in a large study of mutant mice by researchers at the Wellcome Sanger Institute and King's College London, as well as their colleagues. The newly identified genes reveal the metabolic pathways and regulatory processes involved in the hearing.
The study, published in the journal open access PLOS Biology, helps to understand the underlying biology of deafness and is also a rich source of therapeutic targets for the restoration of hearing.
Progressive hearing loss with age is extremely common in the population, resulting in speech comprehension difficulties, increased social isolation and badociated depression. It can often be inherited, but very little is known about the molecular pathways leading to hearing loss, which hampers the development of treatments.
To identify new molecules involved in hearing loss, the researchers adopted a genetic approach and created 1,211 new mouse mutants. They examined each of these mice with the aid of a sensitive electrophysiological test, the auditory response of the brainstem, to determine the quality of their hearing.
This large-scale screen of targeted mouse mutants identified 38 genes involved in hearing loss in mice, which had never been suspected of being involved in the hearing.
Researchers also badyzed data * on human DNA to find out if any of these 38 genes found in mice were badociated with hearing loss in adults. They found that 11 of these 38 genes were significantly badociated with hearing ability in the British population. In addition, one gene, SPNS2, was badociated with childhood deafness.
Some of these genes have revealed molecular pathways that could be useful targets for drug development.
Dr. Chris Lelliott, author of the Wellcome Sanger Institute, said, "This is the first time a study of this magnitude has examined hearing levels and different types of hearing loss in mutant mice and shows the power large gene screens Previously, only a handful of genes were specifically related to age-related hearing loss, so our study now adds many more potential new genes to track. "
Further badysis of the identified genes and the many different mechanisms in the ear revealed by the mutations suggests that hearing loss is an extremely varied disorder that can involve up to 1,000 genes.
Dr. Selina Pearson, of the Wellcome Sanger Institute, said, "This study provides considerable insight into the complex biology of hearing loss and shows that, because of the diversity of genes and pathways found, there is no need for it. will have no quick fix, put an end to any age-related deafness.This highlights the interest of studies on mice to identify the genes and mechanisms underlying complex processes such as that hearing. "
The results of the study suggest that therapies may need to be directed to the common molecular pathways involved in deafness rather than individual genes or mutations.
Professor Karen Steel, lead author of the Wellcome Sanger Institute and King's College London, said: "Many of these new mutant mouse lineages exhibited normal auditory development followed by subsequent deterioration, suggesting that the genes involved are good candidates for the age of man.Our next step is to determine if we can influence the molecular pathways involved in order to slow down or stop the progression of hearing loss. "
This article has been republished from materials provided by the Wellcome Sanger Institute. Note: Content may have changed for length and content. For more information, please contact the cited source.
Reference: Ingham et al. 2019. A mouse screen reveals several new genes underlying hearing loss in mice and humans. PLOS Biology. DOI: https://doi.org/10.1371/journal.pbio.3000194.
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