隐性遗传性营养不良型大疱性表皮松解症的基因治疗进展

doi:10.35541/cjd.20210499

中华皮肤科杂志 ›› 2022, Vol. 55 ›› Issue (8): 739-743.doi: 10.35541/cjd.20210499

• 综述 • 上一篇

隐性遗传性营养不良型大疱性表皮松解症的基因治疗进展

鲍迎秋¹ 张艳君² 李博¹ 宫静³ 傅裕¹ 徐哲⁴

¹北京医院皮肤科国家老年医学中心中国医学科学院老年医学研究院，北京 100730；²中吉智药（北京）生物技术有限公司，北京 100176；³克拉玛依市中心医院门诊部，克拉玛依 834000；⁴国家儿童医学中心首都医科大学附属北京儿童医院皮肤科，北京 100045

收稿日期:2021-07-04 修回日期:2021-10-12 发布日期:2022-08-02
通讯作者: 傅裕；徐哲 E-mail:13601326358@163.com; zhexu_cmu@163.com
基金资助:
北京市自然科学基金（7202177）；北京市儿科学科协同发展中心“儿科专项”基金（XTAD20180502）

Gene therapy for recessive dystrophic epidermolysis bullosa

Bao Yingqiu¹, Zhang Yanjun², Li Bo1, Gong Jing³, Fu Yu1, Xu Zhe⁴

¹Department of Dermatology, Beijing Hospital, National Center of Gerontology, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, Beijing 100730, China;²Genmedicn Biopharma Inc., Beijing 100176, China; ³Department of Dermatology, Outpatient Department, Karamay Central Hospital of Xinjiang, Karamay 834000, Xinjiang, China; ⁴Department of Dermatology, Beijing Children′s Hospital, Capital Medical University, National Center for Children′s Health, Beijing 100045, China

Received:2021-07-04 Revised:2021-10-12 Published:2022-08-02
Contact: Fu Yu; Xu Zhe E-mail:13601326358@163.com; zhexu_cmu@163.com
Supported by:
Beijing Municipal Natural Science Foundation （7202177）; The Special Fund of the Pediatric Medical Coordinated Development Center of Beijing Hospitals Authority （XTZD20180502）

摘要/Abstract

摘要： 【摘要】隐性遗传性营养不良型大疱性表皮松解症（RDEB）是由编码Ⅶ型胶原α-1链的COL7A1基因发生突变导致缺少有功能的Ⅶ型胶原蛋白（C7）所致，尚无有效治疗方法，支持性缓和治疗是目前唯一的治疗手段。基因治疗有望成为RDEB的有效治疗措施。本文综述了目前国际上各RDEB基因治疗临床试验的策略、进展及优缺点，展望今后的发展方向。

关键词: 大疱性表皮松解, 基因疗法, 胶原Ⅶ型, 成纤维细胞, 角蛋白细胞

Abstract: 【Abstract】 Recessive dystrophic epidermolysis bullosa （RDEB） is caused by loss-of-function mutations in the COL7A1 gene encoding the α-1 chain of type Ⅶ collagen, leading to reduced or absent expression of basement membrane type Ⅶ collagen （C7）. Currently, there is no effective treatment for this rare disease, and the management is mainly palliative and supportive. Gene therapy is expected to be an effective treatment of RDEB. This review summarizes current strategies of gene therapy in clinical trials for RDEB, as well as their progress, pros and cons, and prospects.

Key words: Epidermolysis bullosa, Gene therapy, Collagen type Ⅶ, Fibroblasts, Keratinocytes

鲍迎秋张艳君李博宫静傅裕徐哲. 隐性遗传性营养不良型大疱性表皮松解症的基因治疗进展[J]. 中华皮肤科杂志, 2022,55(8):739-743. doi:10.35541/cjd.20210499

Bao Yingqiu, Zhang Yanjun, Li Bo, Gong Jing, Fu Yu, Xu Zhe. Gene therapy for recessive dystrophic epidermolysis bullosa[J]. Chinese Journal of Dermatology, 2022, 55(8): 739-743.doi:10.35541/cjd.20210499

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隐性遗传性营养不良型大疱性表皮松解症的基因治疗进展

Gene therapy for recessive dystrophic epidermolysis bullosa

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