微肌营养不良蛋白基因治疗在杜氏肌营养不良症患者中实现全身性给药。
Micro-Dystrophin Gene Therapy Goes Systemic in Duchenne Muscular Dystrophy Patients.
机构信息
1 Department of Molecular Microbiology and Immunology, University of Missouri , Columbia, Missouri.
2 Department of Biomedical Sciences, College of Veterinary Medicine, University of Missouri , Columbia, Missouri.
出版信息
Hum Gene Ther. 2018 Jul;29(7):733-736. doi: 10.1089/hum.2018.012. Epub 2018 Apr 5.
Abstract
Whole-body systemic gene therapy is likely the most effective way to reduce greatly the disease burden of Duchenne muscular dystrophy (DMD), an X-linked inherited muscle disease that leads to premature death in early adulthood. Genetically, DMD is due to null mutation of the dystrophin gene, one of the largest genes in the genome. Recent studies have shown highly promising improvements in animal models with intravascular delivery of the engineered micro-dystrophin gene by adeno-associated virus (AAV). Several human trials are now started to advance AAV micro-dystrophin therapy to DMD patients. This is a historical moment for the entire field. Results from these trials will shape the future of neuromuscular disease gene therapy.
摘要
全身性系统基因治疗可能是降低杜氏肌营养不良症（DMD）疾病负担的最有效方法，DMD 是一种 X 连锁遗传性肌肉疾病，会导致患者在成年早期过早死亡。从遗传学角度来看，DMD 是由于肌营养不良蛋白基因的无效突变引起的，该基因是基因组中最大的基因之一。最近的研究表明，通过腺相关病毒（AAV）血管内递送工程微肌营养不良蛋白基因，在动物模型中取得了非常有前景的改善。目前已经启动了几项人类试验，将 AAV 微肌营养不良蛋白疗法推进到 DMD 患者中。这是整个领域的历史性时刻。这些试验的结果将塑造神经肌肉疾病基因治疗的未来。
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