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本文引用的文献

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Hemophilia B Gene Therapy with a High-Specific-Activity Factor IX Variant.采用高特异性活性因子IX变体的B型血友病基因疗法。
N Engl J Med. 2017 Dec 7;377(23):2215-2227. doi: 10.1056/NEJMoa1708538.
2
[Progress in gene therapy for Duchenne muscular dystrophy].
Zhonghua Er Ke Za Zhi. 2017 Sep 2;55(9):717-719. doi: 10.3760/cma.j.issn.0578-1310.2017.09.022.
3
Dual AAV Gene Therapy for Duchenne Muscular Dystrophy with a 7-kb Mini-Dystrophin Gene in the Canine Model.双 AAV 基因治疗犬模型中的 7kb 微小 dystrophin 基因治疗杜氏肌营养不良症。
Hum Gene Ther. 2018 Mar;29(3):299-311. doi: 10.1089/hum.2017.095. Epub 2017 Aug 4.
4
Long-term microdystrophin gene therapy is effective in a canine model of Duchenne muscular dystrophy.长期微肌营养不良蛋白基因治疗对杜氏肌营养不良症犬模型有效。
Nat Commun. 2017 Jul 25;8:16105. doi: 10.1038/ncomms16105.
5
Correction of the Exon 2 Duplication in DMD Myoblasts by a Single CRISPR/Cas9 System.利用单一CRISPR/Cas9系统纠正杜氏肌营养不良症成肌细胞中的外显子2重复
Mol Ther Nucleic Acids. 2017 Jun 16;7:11-19. doi: 10.1016/j.omtn.2017.02.004. Epub 2017 Feb 10.
6
A New Kid on the Playground of CRISPR DMD Therapy.CRISPR 杜氏肌营养不良症治疗领域的新成员。
Hum Gene Ther Clin Dev. 2017 Jun;28(2):62-64. doi: 10.1089/humc.2017.075.
7
Cellular Reprogramming, Genome Editing, and Alternative CRISPR Cas9 Technologies for Precise Gene Therapy of Duchenne Muscular Dystrophy.用于杜氏肌营养不良症精确基因治疗的细胞重编程、基因组编辑及替代性CRISPR Cas9技术
Stem Cells Int. 2017;2017:8765154. doi: 10.1155/2017/8765154. Epub 2017 May 15.
8
CRISPR-Cpf1: A New Tool for Plant Genome Editing.CRISPR-Cpf1:一种新的植物基因组编辑工具。
Trends Plant Sci. 2017 Jul;22(7):550-553. doi: 10.1016/j.tplants.2017.05.001. Epub 2017 May 19.
9
Creation of a Novel Humanized Dystrophic Mouse Model of Duchenne Muscular Dystrophy and Application of a CRISPR/Cas9 Gene Editing Therapy.创建新型人源化杜氏肌营养不良症模型鼠及 CRISPR/Cas9 基因编辑疗法的应用。
J Neuromuscul Dis. 2017;4(2):139-145. doi: 10.3233/JND-170218.
10
CRISPR-Cpf1 correction of muscular dystrophy mutations in human cardiomyocytes and mice.CRISPR-Cpf1 纠正人类心肌细胞和小鼠中的肌肉营养不良突变。
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[杜氏肌营养不良症的基因治疗综述]

[A review of gene therapy for Duchenne muscular dystrophy].

作者信息

Dong Qi-Chao, Chen Hui-Min, Jin Xin

机构信息

Medical School of Shaoxing University, Shaoxing, Zhejiang 312000, China.

出版信息

Zhongguo Dang Dai Er Ke Za Zhi. 2018 Aug;20(8):691-696. doi: 10.7499/j.issn.1008-8830.2018.08.017.

DOI:10.7499/j.issn.1008-8830.2018.08.017
PMID:30111482
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7389749/
Abstract

Duchenne muscular dystrophy (DMD) is an X-linked recessive hereditary disease caused by mutations in the DMD gene that encodes dystrophin. It is characterized by progressive muscle weakness and degeneration of skeletal muscle and myocardium due to the absence of dystrophin. The disease often occurs at the age of 2-5 years, and most children may die of heart failure or respiratory insufficiency at the age of around 20 years. At present, supportive therapy is often used in clinical practice to improve symptoms, but this cannot improve the outcome of this disease. The development of gene therapy brings new hope to the cure of this disease. This article summarizes gene replacement therapy for DMD, including the research advances in DMD gene transduction technology mediated by adeno-associated virus, utrophin protein upregulation technology, and clustered regularly interspaced short palindromic repeat gene editing technology, and reviews the recommendations to solve the issues of adeno-associated viral load, long-term effective expression of transgenic products, and utrophin protein expression, in order to provide a reference for further research.

摘要

杜兴氏肌肉营养不良症(DMD)是一种X连锁隐性遗传性疾病,由编码抗肌萎缩蛋白的DMD基因突变引起。其特征是由于缺乏抗肌萎缩蛋白,导致进行性肌肉无力以及骨骼肌和心肌退化。该疾病通常在2至5岁时发病,大多数患儿可能在20岁左右死于心力衰竭或呼吸功能不全。目前,临床实践中常采用支持性疗法来改善症状,但这并不能改善该疾病的预后。基因治疗的发展为治愈这种疾病带来了新希望。本文总结了DMD的基因替代疗法,包括腺相关病毒介导的DMD基因转导技术、肌营养蛋白上调技术和成簇规律间隔短回文重复序列基因编辑技术的研究进展,并对解决腺相关病毒载量、转基因产物长期有效表达以及肌营养蛋白表达等问题的建议进行了综述,以期为进一步研究提供参考。