Arechavala-Gomeza Virginia, Khoo Bernard, Aartsma-Rus Annemieke
Neuromuscular Disorders Group, BioCruces Health Research Institute, Barakaldo, Bizkaia, Spain.
Endocrinology, Division of Medicine, University College London, London, UK.
Appl Clin Genet. 2014 Dec 4;7:245-52. doi: 10.2147/TACG.S71506. eCollection 2014.
Antisense-mediated splicing modulation is a tool that can be exploited in several ways to provide a potential therapy for rare genetic diseases. This approach is currently being tested in clinical trials for Duchenne muscular dystrophy and spinal muscular atrophy. The present review outlines the versatility of the approach to correct cryptic splicing, modulate alternative splicing, restore the open reading frame, and induce protein knockdown, providing examples of each. Finally, we outline a possible path forward toward the clinical application of this approach for a wide variety of inherited rare diseases.
反义介导的剪接调控是一种可通过多种方式加以利用的工具，有望为罕见遗传病提供治疗方法。目前，这种方法正在杜氏肌营养不良症和脊髓性肌萎缩症的临床试验中进行测试。本综述概述了该方法在纠正隐蔽剪接、调控可变剪接、恢复开放阅读框以及诱导蛋白质敲低方面的多功能性，并分别给出了示例。最后，我们概述了将这种方法临床应用于多种遗传性罕见病的可能途径。
