Abstract
Hearing loss is the most common sensory disorder with ~466 million people worldwide affected, representing about 5% of the population. A substantial portion of hearing loss is genetic. Hearing loss can either be non-syndromic, if hearing loss is the only clinical manifestation, or syndromic, if the hearing loss is accompanied by a collage of other clinical manifestations. Usher syndrome is a syndromic form of genetic hearing loss that is accompanied by impaired vision associated with retinitis pigmentosa and, in many cases, vestibular dysfunction. It is the most common cause of deaf-blindness. Currently cochlear implantation or hearing aids are the only treatments for Usher-related hearing loss. However, gene therapy has shown promise in treating Usher-related retinitis pigmentosa. Here we review how the etiologies of Usher-related hearing loss make it a good candidate for gene therapy and discuss how various forms of gene therapy could be applied to Usher-related hearing loss.
Highlights
Hearing LossThe ear is a highly evolved sensory organ with a complex mechanotransduction pathway
The ear can be divided into three anatomical sections—the outer ear, the middle ear, and the inner ear
We focus on the progress towards novel therapies for Usher syndrome and how these can be applied to Usher-related hearing loss
Summary
The ear is a highly evolved sensory organ with a complex mechanotransduction pathway. Movements of the stereocilia result in the opening of ion channels on the hair cells, producing an action potential Through this process mechanical sound waves are converted into electrical impulses that travels down the vestibulocochlear nerve (CNVIII) to be processed by the brain. While some of the genes resulting in Usher syndrome have been identified for some time there has been limited progress in therapeutic options for hearing loss in these patients [18]. Supportive techniques such as hearing aids or cochlear implants are the only options for those subtypes that are amenable [19]. Balance deficits in USH1 and USH3 can be aggravated further by the loss of vision due to RP [18]
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