Akouos Inc., Boston, Massachusetts.
Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts.
J Am Acad Audiol. 2021 Nov;32(10):646-653. doi: 10.1055/s-0041-1730410. Epub 2022 May 24.
Millions of people worldwide have disabling hearing loss because one of their genes generates an incorrect version of some specific protein the ear requires for hearing. In many of these cases, delivering the correct version of the gene to a specific target cell within the inner ear has the potential to restore cochlear function to enable high-acuity physiologic hearing. Purpose: In this review, we outline our strategy for the development of genetic medicines with the potential to treat hearing loss. We will use the example of otoferlin gene ()-mediated hearing loss, a sensorineural hearing loss due to autosomal recessive mutations of the gene.
全世界有数百万的人患有失能性听力损失，因为他们的一个基因产生了耳朵听力所需的某种特定蛋白的错误版本。在许多情况下，将基因的正确版本递送到内耳的特定靶细胞内有可能恢复耳蜗功能，从而实现高保真生理听力。
在这篇综述中，我们概述了开发具有治疗听力损失潜力的基因药物的策略。我们将以 otoferlin 基因（）介导的听力损失为例，这是一种由于 otoferlin 基因突变导致的常染色体隐性遗传性听力损失。
