She continues: "Presbycusis is the main modifiable risk factor for dementia. "It affects more than a third of people over the age of 65 and is a major source of disability," explains Christine Petit, a Professor at the Institut Pasteur and at the Collège de France and Director of the Hearing Institute, an Institut Pasteur center for auditory neuroscience research that opened in early 2020. These forms of monogenic presbycusis represent promising targets for gene therapy, which was previously only under development for forms of early-onset hearing loss. Their pathogenicity was established by performing complementary analyses, which included introducing the same mutation in mice. A quarter of cases presented ultra-rare mutations in genes responsible for hearing loss in children. Scientists investigated cases of presbycusis occurring around the age of 50, some affecting several members of the same family, to look for ultra-rare variants. Ultra-rare variants, on the other hand, have a strong impact and can result in monogenic forms of hearing loss they are caused by one or more mutations in a single gene. As a general rule, frequent variants have little or very little effect it is their cumulative impact in several genes that explains the impairment. A genomic analysis can identify gene variants whose pathogenicity subsequently needs to be confirmed. Presbycusis, or age-related hearing loss, involves genetic and environmental factors.
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