Gene therapy in monogenic congenital myopathies.
Gene therapy in monogenic congenital myopathies.
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单基因先天性肌病的基因治疗。
DOI：
10.1016/j.ymeth.2015.10.004
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发表时间：
2016
期刊：
影响因子：
--
通讯作者：
Childers,MartinK
中科院分区：
文献类型：
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作者：
Guan,Xuan;Goddard,MelissaA;Mack,DavidL;Childers,MartinK
目前单基因先天性肌病（MCM）患者的治疗方案改善了疾病的症状，但没有解决根本原因。然而，正在开发基因疗法，其中突变或缺陷的基因靶被替换。在动物模型中的临床前发现似乎是有希望的，如犬和鼠模型中X连锁肌管性肌病（XLM ™）的基因置换所示。在这篇综述中，以这些疾病为例，讨论了基因替代治疗的前景和方法。
Current treatment options for patients with monogenetic congenital myopathies (MCM) ameliorate the symptoms of the disorder without resolving the underlying cause. However, gene therapies are being developed where the mutated or deficient gene target is replaced. Preclinical findings in animal models appear promising, as illustrated by gene replacement for X-linked myotubular myopathy (XLMTM) in canine and murine models. Prospective applications and approaches to gene replacement therapy, using these disorders as examples, are discussed in this review.