Friedmann T
UCSD School of Medicine, University of California-San Diego, La Jolla, CA, USA.
Gene Ther. 2017 Sep;24(9):503-505. doi: 10.1038/gt.2017.48. Epub 2017 Jun 22.
An experimental approach for gene therapy of spinomuscular atrophy has been reported to prevent development of the neuromuscular features of this lethal and previously untreatable disorder. The approach involves treatment of patients suffering from SMN1-associated infantile form of the disease with a splice-switching antisense oligonucleotide (ASO) that corrects aberrant splicing of the nearly identical SMN2 gene to allow the generation of functional SMN protein, thereby mitigating the development of the disease. This technique represents the first apparently effective therapy for spinal muscular atrophy (SMA) and an important documentation for ASO technology for therapy of neurodegenerative disease. These results with one form of SMA are likely to be relevant for similar applications to other SMA types and are likely to inspire application to a number of other intractable neurodegenerative diseases such as Huntington's disease, amyotrophic lateral sclerosis and possibly even the extremely common Parkinson's and Alzheimer's diseases and others. Nevertheless, the scientific and medical importance of this advance is marred by a pricing policy by the corporate sponsors that may complicate accessibility of the drug for some desperate patients.
据报道，一种用于脊髓性肌萎缩症基因治疗的实验方法可预防这种致命且此前无法治疗的疾病的神经肌肉特征的发展。该方法涉及用一种剪接转换反义寡核苷酸（ASO）治疗患有与SMN1相关的婴儿型疾病的患者，该反义寡核苷酸可纠正几乎相同的SMN2基因的异常剪接，从而产生功能性SMN蛋白，进而减轻疾病的发展。这项技术代表了脊髓性肌萎缩症（SMA）的首个明显有效的治疗方法，也是ASO技术用于神经退行性疾病治疗的重要记录。这些针对一种形式SMA的结果可能与其他SMA类型的类似应用相关，并且可能会激发其应用于许多其他难治性神经退行性疾病，如亨廷顿舞蹈症、肌萎缩侧索硬化症，甚至可能包括极为常见的帕金森病和阿尔茨海默病等。然而，企业赞助商的定价政策损害了这一进展的科学和医学重要性，这可能会使一些绝望的患者难以获得该药物。
