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New hope for treatment of hearing loss: Researchers identify 48 genes linked to hearing loss

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To identify the genes, the researchers used data from 723,266 people from 17 studies who had clinically diagnosed or self-reported hearing impairments and examined genetic tests previously performed in centers around the world.

Researchers identified 48 genes associated with hearing loss, including 10 new variants.

Hearing loss is a common problem caused by noise, age, disease and genetics. While the use of hearing protection can help prevent hearing loss due to noise, you may think that there is nothing you can do when the cause is age and genetics. But researchers are working to develop new drugs and gene therapies for these conditions.

Research shows that one in eight people in the United States (13%, or 30 million) aged 12 or older has hearing loss in both ears, based on standard hearing tests. Conversations with friends and family can be difficult for people with hearing loss. They may also have difficulty understanding medical advice, responding to warnings and hearing doorbells and alarms.

Researchers from King’s College Londonthe Karolinska Institutetand Erasmus University have recently discovered ten more genes linked to hearing loss and located the part of the ear that is affected.

The results, which were published in American Journal of Human Genetics doubted on May 16, 2022, the notion that age-related hearing loss is primarily caused by sensory hair cells. Stria vascularis, a region of the cochlea in the ear, is a new target for drugs to help patients with hearing loss, according to researchers.

Ear anatomy marked

The stria vascularis is a region of the cochlea in the ear.

As people get older, they will lose some of their hearing capacity, and by 2050, an estimated 2.4 billion people will have some form of hearing loss. Hearing loss as people get older is a major contributing factor to how many years they spend being disabled, and it is also a major risk factor for dementia.

The team studied genetic analyzes previously performed in centers around the world using samples from 723,266 people from 17 studies who had clinically diagnosed or self-reported hearing impairments. This meta-analysis is one of the largest that has been performed in auditory genetics to date. The researchers identified 48 genes linked to hearing loss, including 10 new variants recently linked to hearing loss.

Further analysis of mouse genetics showed that age-related hearing loss is due to changes in the stria vascularis that are necessary for hearing. The results provide goals for the basis for future research that could improve treatments for hearing loss.

Co-author Frances Williams, a professor at King’s College London, said: “Our findings identify 10 genes that have recently been linked to hearing loss. This study points to genes that we could target for screening, drug development and even gene therapy in the future. study provides a solid foundation for ultimately improving treatments for hearing loss. ”

Co-author Christopher R. Cederroth, associate professor at Karolinska Institutet, said: “It has been assumed since the 1970s that stria vascularis may play a role in hearing loss in humans, but the molecular evidence for this was lacking until today.”

Reference: “Comprehensive association meta-analysis identifies 48 risk variants and highlights the role of stria vascularis in hearing loss” by Natalia Trpchevska, Maxim B. Freidin, Linda Broer, Berthe C. Oosterloo, Shuyang Yao, Yitian Zhou, Barbara Vona, Charles Bishop, Argyro Bizaki-Vallaskas , Barbara Canlon, Fabio Castellana, Daniel I. Chasman, Stacey Cherny, Kaare Christensen, Maria Pina Concas, Adolfo Correa, Ran Elkon, Estonian Biobank Research Team, Jonas Mengel-From, Yan Gao, Anne BS Giersch, Giorgia Girotto, Alexander Gudjonsson , Vilmundur Gudnason, Nancy L. Heard-Costa, Ronna Hertzano, Jacob vB Hjelmborg, Jens Hjerling-Leffler, Howard J. Hoffman, Jaakko Kaprio, Johannes Kettunen, Kristi Krebs, Anna K. Kähler, Francois Lallemend, Lenore J. Launer, I-Min Lee, Hampton Leonard, Chuan-Ming Li, Hubert Lowenheim, Patrik KE Magnusson, Joyce van Meurs, Lili Milani, Cynthia C. Morton, Antti Mäkitie, Mike A. Nalls, Giuseppe Giovanni Nardone, Marianne Nygaard, Teemu Palviainen, Shei la Pratt, Nicola Quaranta, Joel Rämö, Elmo Saarentaus, Rodolfo Sardone, Claudia L. Satizabal, John M. Schweinfurth, Sudha Seshadri, Eric Shiroma, Eldad Shulman, Eleanor Simonsick, Christopher Spankovich, Anke Tropitzsch, Volker M. Lauschke, Patrick F Sullivan, Andre Goedegebure, Christopher R. Cederroth, Frances MK Williams and Andries Paul Nagtegaal, 16 May 2022, American Journal of Human Genetics.
DOI: 10.1016 / j.ajhg.2022.04.010


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