Suppr超能文献

腺相关病毒介导的遗传性耳聋基因治疗:进展与展望

AAV-mediated Gene Therapy for Hereditary Deafness: Progress and Perspectives.

作者信息

Zhang Liyan, Tan Fangzhi, Qi Jieyu, Lu Yicheng, Wang Xiaohan, Yang Xuehan, Chen Xiangyan, Zhang Xinru, Fan Jinyi, Zhou Yinyi, Peng Li, Li Nianci, Xu Lei, Yang Shiming, Chai Renjie

机构信息

State Key Laboratory of Digital Medical Engineering, Department of Otolaryngology Head and Neck Surgery, Zhongda Hospital, School of Life Sciences and Technology, School of Medicine, Advanced Institute for Life and Health, Jiangsu Province High-Tech Key Laboratory for Bio-Medical Research, Southeast University, Nanjing, 210096, China.

Co-Innovation Center of Neuroregeneration, Nantong University, Nantong, 226001, China.

出版信息

Adv Sci (Weinh). 2024 Dec;11(47):e2402166. doi: 10.1002/advs.202402166. Epub 2024 Nov 18.

Abstract

Hereditary deafness is the most prevalent sensory deficit disorder, with over 100 identified deafness-related genes. Clinical treatment options are currently limited to external devices like hearing aids and cochlear implants. Gene therapy has shown promising results in various genetic disorders and has emerged as a potential treatment for hereditary deafness. It has successfully restored hearing function in >20 types of genetic deafness model mice and can almost completely cure patients with hereditary autosomal recessvie deafness 9 (DFNB9) caused by the OTOFERLIN (OTOF) mutation, thus serving as a translational paradigm for gene therapy for other forms of genetic deafness. However, due to the complexity of the inner ear structure, the diverse nature of deafness genes, and variations in transduction efficiency among different types of inner ear cells targeted by adeno-associated virus (AAV), precision gene therapy approaches are required for different genetic forms of deafness. This review provides a comprehensive overview of gene therapy for hereditary deafness, including preclinical studies and recent research advancements in this field as well as challenges associated with AAV-mediated gene therapy.

摘要

遗传性耳聋是最常见的感觉缺陷障碍,已鉴定出100多种与耳聋相关的基因。目前的临床治疗选择仅限于助听器和人工耳蜗等外部设备。基因治疗在各种遗传疾病中已显示出有前景的结果,并已成为遗传性耳聋的一种潜在治疗方法。它已在20多种遗传性耳聋模型小鼠中成功恢复了听力功能,并且几乎可以完全治愈由OTOFERLIN(OTOF)突变引起的遗传性常染色体隐性耳聋9(DFNB9)患者,从而成为其他形式遗传性耳聋基因治疗的转化范例。然而,由于内耳结构的复杂性、耳聋基因的多样性以及腺相关病毒(AAV)靶向的不同类型内耳细胞之间转导效率的差异,针对不同遗传形式的耳聋需要精确的基因治疗方法。本综述全面概述了遗传性耳聋的基因治疗,包括该领域的临床前研究和最新研究进展以及与AAV介导的基因治疗相关的挑战。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9379/11653604/fdf134ea6da5/ADVS-11-2402166-g009.jpg

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验