遗传性疾病的治疗——杜氏肌营养不良症的新型疗法
Therapy of Genetic Disorders-Novel Therapies for Duchenne Muscular Dystrophy.
作者信息
Seto Jane T, Bengtsson Niclas E, Chamberlain Jeffrey S
机构信息
Department of Neurology, 1959 NE Pacific St, University of Washington, Seattle, Washington 98195-7720, USA, Tel: 206-616-6645.
出版信息
Curr Pediatr Rep. 2014 Jun 1;2(2):102-112. doi: 10.1007/s40124-014-0044-x.
Abstract
Duchenne muscular dystrophy (DMD) is an inherited, progressive muscle wasting disorder caused by mutations in the dystrophin gene. An increasing variety of approaches are moving towards clinical testing that all aim to restore dystrophin production and to enhance or preserve muscle mass. Gene therapy methods are being developed to replace the defective dystrophin gene or induce dystrophin production from mutant genes. Stem cell approaches are being developed to replace lost muscle cells while also bringing in new dystrophin genes. This review summarizes recent progress in the field with an emphasis on clinical applications.
摘要
杜氏肌营养不良症（DMD）是一种由肌营养不良蛋白基因突变引起的遗传性进行性肌肉萎缩疾病。越来越多的方法正朝着临床试验迈进，所有这些方法都旨在恢复肌营养不良蛋白的产生，并增加或维持肌肉质量。正在开发基因治疗方法来替代有缺陷的肌营养不良蛋白基因，或诱导突变基因产生肌营养不良蛋白。正在开发干细胞方法来替代丢失的肌肉细胞，同时引入新的肌营养不良蛋白基因。本综述总结了该领域的最新进展，重点是临床应用。
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本文引用的文献
1
2
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Mol Ther. 2014 Feb;22(2):338-347. doi: 10.1038/mt.2013.244. Epub 2013 Oct 23.
3
Triple trans-splicing adeno-associated virus vectors capable of transferring the coding sequence for full-length dystrophin protein into dystrophic mice.能够将全长肌营养不良蛋白编码序列转移到肌营养不良小鼠中的三重跨剪接腺相关病毒载体。
Hum Gene Ther. 2014 Feb;25(2):98-108. doi: 10.1089/hum.2013.164. Epub 2013 Dec 19.
4
Vascular delivery of rAAVrh74.MCK.GALGT2 to the gastrocnemius muscle of the rhesus macaque stimulates the expression of dystrophin and laminin α2 surrogates.将重组腺相关病毒rh74.MCK.GALGT2经血管递送至恒河猴腓肠肌可刺激抗肌萎缩蛋白和层粘连蛋白α2替代物的表达。
Mol Ther. 2014 Apr;22(4):713-24. doi: 10.1038/mt.2013.246. Epub 2013 Oct 22.
5
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Hum Gene Ther. 2013 Sep;24(9):797-806. doi: 10.1089/hum.2013.092.
6
Eteplirsen for the treatment of Duchenne muscular dystrophy.依替膦酸酯治疗杜氏肌营养不良症。
Ann Neurol. 2013 Nov;74(5):637-47. doi: 10.1002/ana.23982. Epub 2013 Sep 10.
7
Overcoming preexisting humoral immunity to AAV using capsid decoys.利用衣壳诱饵克服 AAV 的预先存在的体液免疫。
Sci Transl Med. 2013 Jul 17;5(194):194ra92. doi: 10.1126/scitranslmed.3005795.
8
Micro-dystrophin and follistatin co-delivery restores muscle function in aged DMD model.微肌营养不良蛋白和卵泡抑素共递药可恢复老年 DMD 模型的肌肉功能。
Hum Mol Genet. 2013 Dec 15;22(24):4929-37. doi: 10.1093/hmg/ddt342. Epub 2013 Jul 17.
9
A lack of premature termination codon read-through efficacy of PTC124 (Ataluren) in a diverse array of reporter assays.在多种报告基因检测中，PTC124（Ataluren）缺乏提前终止密码子通读的功效。
PLoS Biol. 2013;11(6):e1001593. doi: 10.1371/journal.pbio.1001593. Epub 2013 Jun 25.
10
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Mol Ther. 2013 Aug;21(8):1551-8. doi: 10.1038/mt.2013.121. Epub 2013 Jun 11.
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