Trpchevska et al. identified 48 associated loci, including 10 novel associations and 8 missense SNPs; the work highlights the role of the cochlear lateral wall including the stria vascularis and the outer sulcus as a contributor to hearing loss; the results provide a valuable resource for the selection of promising genes for further functional validation in pre-clinical models and define targets for screening purposes, drug development, gene therapy, or stratification approaches. Image credit: Pexels.

Researchers identify ten new hearing loss genes | Sci-News.com

A multinational team of scientists performed a genome-wide association meta-analysis of clinically diagnosed and self-reported hearing loss on 723,266 people and identified 48 important genes, 10 of which are new to science. Their findings cast doubt on the understanding that age-related hearing loss stems primarily from sensory hair cells. They argue that the stria vascularis, part of the cochlea in the ear, is a new target for treatments to help people with hearing loss.

Trpchevska et al. identified 48 associated loci, including 10 novel associations and 8 missense SNPs; work highlights the role of the cochlear lateral wall, including the stria vascularis and the external sulcus, as a contributor to hearing loss; the results provide a valuable resource for selecting promising genes for further functional validation in preclinical models and defining targets for screening, drug development, gene therapy or stratification approaches. Image credit: Pexels.

The number of people with mild to complete hearing loss is expected to increase to approximately 2.45 billion worldwide by 2050, primarily due to age-related hearing loss.

Hearing loss is ranked as the third leading cause of global years lived with disability at all ages and the leading cause in people over 70, compared to all other disease categories.

The global global cost of untreated hearing loss exceeds $981 billion per year.

Age-related hearing loss has been associated with social withdrawal, depression, anxiety, as well as cognitive decline and dementia.

There is no preventive treatment for hearing loss and therapies are currently only available in the form of hearing aids or cochlear implants.

Moreover, the impact of untreated hearing loss remains underestimated because government and industry incentives are still very low compared to other diseases of equal prevalence.

Enrichment assessment of genome-wide association study results of common-variant hearing loss in mouse scRNA-seq datasets.  Image credit: Trpchevska et al., doi: 10.1016/j.ajhg.2022.04.010.

Enrichment assessment of genome-wide association study results of common-variant hearing loss in mouse scRNA-seq datasets. Image credit: Trpchevska et al., doi: 10.1016/j.ajhg.2022.04.010.

To gain fundamental insights into the genetic basis of hearing loss, Frances Williams, a professor at King’s College London, and her colleagues conducted a meta-analysis of 17 genome-wide association studies on hearing loss. hearing using both ICD diagnostics and self-reported hearing loss.

The study included 147,997 affected individuals and 575,269 control subjects including 60,941 affected individuals who were not in the study. meta-analysis previously published by the team.

The researchers identified 48 genes linked to hearing loss, including 10 novel variants newly linked to hearing.

Further analysis of mouse genetics indicated that age-related hearing loss is due to changes in the stria vascularis what is needed to hear.

The findings provide targets for the basis of future research that could improve hearing loss therapies.

“Our results identify 10 genes that are newly linked to hearing loss,” said Professor Williams.

“This study points to genes that we could target for screening, drug development and even gene therapy in the future.”

“The study provides a solid foundation for improving hearing loss therapies over time.”

“It has been hypothesized since the 1970s that the stria vascularis may play a role in hearing loss in humans, but molecular evidence was lacking until today,” added Dr. Christopher R. Cederroth of the Karolinska Institute.

the results were published in the American Journal of Human Genetics.

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Natalia Trpchevska et al. A genome-wide association meta-analysis identifies 48 risk variants and highlights the role of stria vascularis in hearing loss. AJHG, published online May 16, 2022; doi: 10.1016/j.ajhg.2022.04.010

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