内耳性聋综合征：病因学与基因治疗进展。
Usher Syndrome in the Inner Ear: Etiologies and Advances in Gene Therapy.
机构信息
Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
出版信息
Int J Mol Sci. 2021 Apr 10;22(8):3910. doi: 10.3390/ijms22083910.
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.
听力损失是最常见的感觉障碍，全球有~4.66 亿人受到影响，约占人口的 5%。相当一部分听力损失是遗传性的。听力损失要么是非综合征型的，如果听力损失是唯一的临床表现，要么是综合征型的，如果听力损失伴有一系列其他临床表现。Usher 综合征是一种遗传性听力损失的综合征型，伴有与视网膜色素变性相关的视力障碍，在许多情况下还伴有前庭功能障碍。它是最常见的聋盲原因。目前，人工耳蜗植入或助听器是治疗 Usher 相关听力损失的唯一方法。然而，基因治疗已显示出治疗与 Usher 相关的视网膜色素变性的潜力。在这里，我们回顾了 Usher 相关听力损失的病因如何使其成为基因治疗的良好候选者，并讨论了各种形式的基因治疗如何应用于 Usher 相关听力损失。
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