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双AAV向量介导的表达MYO7A在阿舍尔综合征1B的小鼠模型中改善前庭功能

Samantha C Lau¹, Mhamed Grati¹, Kevin Isgrig¹

¹Inner Ear Gene Therapy Program, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892, USA.

Molecular therapy. Methods & clinical development

|September 11, 2023

概括

使用腺关联病毒 (AAV) 载体的基因治疗成功地改善了在shaker-1小鼠模拟阿舍尔综合征1B型 (USH1B) 的前庭功能. 这种方法在治疗USH1B患者的前庭功能障碍方面表现有前途.

科学领域:

眼科和耳鼻喉科的眼科和耳鼻喉科.
遗传学和遗传性疾病
再生医学是一种再生医学.

背景情况:

艾舍氏综合征1B型 (USH1B) 是遗传性聋盲的主要原因,其特点是严重的听力损失,视力障碍和前庭功能障碍.
MYO7A基因的突变是USH1B的主要原因.
在Myo7a中携带无意义突变的shaker-1小鼠作为USH1B的宝贵临床前模型.

研究的目的:

用shaker-1小鼠模型评估USH1B的腺相关病毒 (AAV) 中介基因治疗的疗效.
评估MYO7A基因替代疗法双AAV输送系统的潜力.

主要方法:

采用双AAV向量系统,将大MYO7AcDNA分成5'和3'片段,送入shaker-1小鼠的内耳.
AAV8 ((Y733F) 载体被用于有效的基因传递.
在治疗后评估了听觉和前庭功能,以及毛发细胞形态.

主要成果:

虽然耳毛细胞存活率有所改善,但在接受治疗的shaker-1小鼠中,听觉功能和立体组织仍然不受影响.
双AAV介导的MYO7A基因传递显著恢复了前置系统中的立体形态.
前庭功能显著改善,以减少循环行为和正常化的前庭感觉唤起潜能 (VsEP) 值为证.

结论:

双AAV介导的MYO7A基因疗法在USH1B的小鼠模型中有效改善前庭功能障碍.
这种基因治疗方法在治疗USH1B患者与前体缺陷相关的致残性头方面具有显著的潜力.

关键词:

在 AAV AAV AAV 中.这就是MYO7A.在USH1B中使用.阿舍尔综合征是什么意思阿舍尔综合征是什么意思双AAV-双AAV可以使用.基因治疗的基因疗法听力损失听力损失是什么前体功能障碍是什么?前体功能障碍是什么?

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相关概念视频

The Vestibular System

The Vestibular System

The vestibular system is a set of inner ear structures that provide a sense of balance and spatial orientation. This system is comprised of structures within the labyrinth of the inner ear, including the cochlea and two otolith organs—the utricle and saccule. The labyrinth also contains three semicircular canals—superior, posterior, and horizontal—that are oriented on different planes.