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浙江大学学报（医学版）
浙江大学学报（医学版）  2016, Vol. 45 Issue (6): 648-654    DOI: 10.3785/j.issn.1008-9292.2016.11.15
综述     
杜氏肌营养不良疾病模型及基因治疗研究进展
李统宇1,2, 梁平1,2
1. 浙江大学医学院附属第一医院肝胆胰外科 卫生部多器官联合移植研究重点实验室 浙江省器官移植重点实验室, 浙江 杭州 310003;
2. 浙江大学转化医学研究院, 浙江 杭州 310029
Research progress on disease models and gene therapy of Duchenne muscular dystrophy
LI Tongyu1,2, LIANG Ping1,2
1. Division of Hepatobilitary and Pancreatic Surgery, the First Affiliated Hospital, Zhejiang University School of Medicine;Key Laboratory of Combined Multi-organ Transplantation, Ministry of Public Health;Key Laboratory of Organ Transplantation, Zhejiang Province, Hangzhou 310003, China;
2. Institute of Translational Medicine, Zhejiang University, Hangzhou 310029, China
 全文: PDF(1011 KB)  
摘要：

杜氏肌营养不良（DMD）是一种X连锁隐性致死性遗传病，通常由基因突变致病，其发病机制复杂多样。该病的致病基因是人类最大的基因，位于Xp21.2区，编码抗肌萎缩蛋白。目前，DMD患者尚无有效的治疗方案。DMD的基因突变及分子机制研究可为其治疗研究打下基础，而后者的进行又需建立在DMD疾病模型之上，如mdx小鼠模型等。随着研究的深入，DMD基因治疗策略不断提出，并在动物模型上取得了不错的效果。除此之外，诱导多能干细胞技术可提供患者特异的细胞来源，为DMD发病机制及治疗研究提供新的平台。
关键词： 基因疗法;  肌营养不良;  杜氏/治疗;  疾病模型;  动物;  多能干细胞;  综述    
Abstract:

Duchenne muscular dystrophy (DMD) is an X-linked, recessive and lethal genetic disease, which usually caused by gene mutations and the underlying mechanisms are complicated and diverse. The causal gene of DMD is the largest one in human that locates in the region of Xp21.2, encoding dystrophin. Currently there is no effective treatment for DMD patients. The treatment of DMD depends on gene mutation and molecular mechanism study of the disease, which requires reliable disease models such as mdx mouse model. Recently, researchers have increasingly discovered gene therapy strategies for DMD, and the efficacy has been demonstrated in DMD animal models. In addition, induced pluripotent stem cell technology can provide patient-specific cell source, offering a new platform for mechanism and therapy study of DMD.
Key words: Gene therapy    Muscular dystrophy, Duchenne/therapy    Disease models, animal    Multipotent stem cells    Review
收稿日期: 2016-09-22
CLC:  R746.2  
基金资助:

浙江省自然科学基金（LR15H020001）；国家自然科学基金（31571528）
通讯作者: 梁平(1981-),男,博士,教授,博士生导师,主要从事多能干细胞与心血管疾病的转化医学研究;E-mail:pingliang@zju.edu.cn;http://orcid.org/0000-0001-6806-3735     E-mail: pingliang@zju.edu.cn
作者简介: 李统宇(1990-),男,硕士研究生,主要从事多能干细胞与心血管疾病的转化医学研究;E-mail:litongyu@zju.edu.cn;http://orcid.org/0000-0003-4634-7643
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引用本文:

李统宇 等. 杜氏肌营养不良疾病模型及基因治疗研究进展[J]. 浙江大学学报（医学版）, 2016, 45(6): 648-654.

LI Tongyu, LIANG Ping. Research progress on disease models and gene therapy of Duchenne muscular dystrophy. Journal of ZheJiang University(Medical Science), 2016, 45(6): 648-654.

链接本文:

http://www.zjujournals.com/xueshu/med/CN/10.3785/j.issn.1008-9292.2016.11.15    或    http://www.zjujournals.com/xueshu/med/CN/Y2016/V45/I6/648

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