耳聋基因治疗：《耳与听觉》特刊综述：听力损失的基因治疗
Jenna Devare1,2, Audrey P Lawrence2, John A Germiller2,3
1Department of Otolaryngology-Head and Neck Surgery, University of Michigan, Ann Arbor, Michigan, USA.
Ear and hearing
|October 13, 2026
Abstract:
在过去的十年中，基因治疗在治疗多种遗传性疾病方面展现出广阔前景。遗传性听力障碍是下一个极具潜力的治疗领域。许多早期研发工作聚焦于由耳铁蛋白基因（OTOF）突变引起的听力障碍，因为这类突变在听觉外毛细胞得以保留的情况下导致重度耳聋，而外毛细胞通常在出生后多年仍可存留。动物模型研究表明，基因递送的靶细胞——内毛细胞——同样存在且具有活性，并位于结构完整且功能正常的器官中。近期报道的OTOF基因治疗取得的显著成功，证实了基因治疗可有效且安全地改善此类乃至其他形式遗传性耳聋患者的听力。本文中，作者综述了耳铁蛋白及其在听觉中的作用、OTOF致病性变异在听力损失中的角色、该疾病的自然病程，以及OTOF基因治疗的临床前研究和当前人体临床试验的结果。
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