内耳细胞骨架相关蛋白基因与非综合征型耳聋的研究进展

王 喜悦, 孙 捷
中山大学附属第八医院

摘要


遗传性耳聋的致病机制研究需聚焦关键基因及其分子路径。本文系统综述了内耳毛细胞骨架相关蛋白基因（如ACTG1、ACTB、MYO7A等）突变导致非综合征型耳聋（non-syndromic hearing loss, NSHL）的分子机制，重点探讨肌动蛋白、肌球蛋白等基因在静纤毛结构与功能维持中的关键作用，并展望基因编辑、基因治疗等技术在该领域治疗的潜在应用。

关键词


遗传性耳聋；非综合征型耳聋；细胞骨架；肌动蛋白；肌球蛋白；基因突变

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参考


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