![]() ![]() USH1G patients are profoundly deaf and have no balance function at birth, and they subsequently suffer from prepubertal-onset sight loss leading to blindness. The various hereditary forms of hearing loss include Usher syndrome type 1 (USH1), a particularly severe clinical form of deaf-blindness, and specifically the USH1G genetic form. To date, mutations in more than 100 genes have been associated with inner ear defects, and it is estimated that mutations in more than 100 genes can cause genetic forms of deafness. The inner ear comprises the hearing organ or cochlea, together with the five balance organs (the saccule, utricle and three semicircular canals), which contain the sensory cells, or hair cells, that detect mechanical vibrations and convert them into electrical signals. ![]() Over the past 20 years, scientists have made remarkable progress in deciphering the genetic origins of congenital hereditary hearing loss, which is usually caused by inner ear dysfunction. In France, one child in 700 is born with severe or profound hearing loss, and one in every 1,000 will lose their sense of hearing before adulthood. Hearing loss, sometimes associated with other disorders such as balance defects, is the most common sensory deficit, affecting more than 280 million people worldwide, according to WHO. These findings, published in the journal PNAS, open up new possibilities for the development of gene therapy treatments for hereditary forms of deafness. By locally injecting the USH1G gene, critical for the formation and maintenance of the hair bundle, the mechanosensory antenna of these cells, the scientists successfully restored the function and the structure of this apparatus, resulting in the first recovery of hearing and balance by gene therapy for this mouse model. ![]() Scientists from the Institut Pasteur, Inserm, the CNRS, Collège de France, University Pierre et Marie Curie, and University Clermont Auvergne*, have recently restored hearing and balance in a mouse model of Usher syndrome type 1G (USH1G) characterized by profound congenital deafness and vestibular disorders caused by severe dysmorphogenesis of the mechanoelectrical transduction apparatus of the inner ear’s sensory cells. ![]()
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