Genetic Medicine for Hearing Loss: OTOF as Exemplar

被引：3
作者：
Hickox, Ann E. [1 ]
Valero, Michelle D. [1 ]
McLaughlin, James T. [1 ]
Robinson, Gregory S. [1 ]
Wellman, Jennifer A. [1 ]
McKenna, Michael J. [1 ]
Sewell, William F. [2 ]
Simons, Emmanuel J. [1 ]
机构：
[1] Akouos Inc, Boston, MA 02210 USA
[2] Harvard Med Sch, Massachusetts Eye & Ear, Boston, MA 02115 USA
来源：
JOURNAL OF THE AMERICAN ACADEMY OF AUDIOLOGY | 2021年 / 32卷 / 10期
关键词：
Ear; Inner; Genetic Testing; Genetic Therapy; Hearing Loss; AUDITORY NEUROPATHY; OTOFERLIN; PROTEIN; VECTOR; REPLENISHMENT; STRATEGIES; DELIVERY; RELEASE; CELLS; STATE;
D O I：
10.1055/s-0041-1730410
中图分类号：
R36 [病理学]; R76 [耳鼻咽喉科学];
学科分类号：
100104 ; 100213 ;
摘要：
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 ( OTOF )-mediated hearing loss, a sensorineural hearing loss due to autosomal recessive mutations of the OTOF gene.
引用
收藏
页码：646 / 653
页数：8
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