Gene editing: A new step and a new direction toward finding a cure for Duchenne muscular dystrophy (DMD).
Gene editing: A new step and a new direction toward finding a cure for Duchenne muscular dystrophy (DMD).
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DOI：
10.1016/j.gendis.2016.02.001
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发表时间：
2016-06
期刊：
影响因子：
6.8
通讯作者：
Xiao X
中科院分区：
文献类型：
--
作者：
Hu J;Xia E;Yang L;Xiao X
杜氏肌营养不良症 (DMD) 是一种进行性肌肉退行性疾病，每 3500 名男性新生儿中就有一人受到影响。患者通常会在 25 岁时死于这种疾病。研究表明，跳过 DMD 基因的前体 mRNA 中含有致病突变的外显子，可以产生缩短但有功能的肌营养不良蛋白，从而为患者带来临床益处。最近，三个研究小组在《科学》杂志上报道了一项突破，他们证明通过基因编辑删除外显子 23 可以恢复肌营养不良蛋白（尽管是缩短的版本）的表达，并改善 DMD 小鼠模型的肌肉功能。
Duchenne muscular dystrophy (DMD) is a progressive muscle degenerative disease affecting one out of 3500 male births. Patients usually succumb to the disease by age 25. It has been shown that skipping exons of the DMD gene that contain disease-causing mutations from the pre-mRNA can result in a shortened, but functional, dystrophin protein that could bring clinical benefits to patients. A recent breakthrough has been reported in Science by three groups who demonstrated that genetically deleting exon 23 by gene editing can restore the expression of dystrophin (albeit a shortened version) and improve the muscle function in a mouse model of DMD.