脊髓性肌萎缩症：治疗策略的文献综述
Spinal muscular atrophy disease: a literature review for therapeutic strategies.
作者信息
Stavarachi M, Apostol P, Toma M, Cimponeriu D, Gavrila L
机构信息
Human Genetics and Molecular Diagnosis Department, Institute of Genetics, 1-3 Portocalelor Street, District 6, postal code 060101, Bucharest, Romania.
出版信息
J Med Life. 2010 Jan-Mar;3(1):3-9.
Abstract
Currently, there is no cure for the treatment of spinal muscular atrophy (SMA). Based on the available clinical and molecular findings, different therapeutic strategies were tested in vitro and in vivo and clinical trials are ongoing. The main therapeutic direction is focused on the enhancement of SMN expression by increasing the full-length (fl) SMN2 transcript levels, preventing the SMN exon 7 from skipping or from protein stabilizing. In addition, the action of neurotrophic, neuroprotective or anabolic agents is tested and stem cell and gene therapy approaches are in a promising development.
摘要
目前，脊髓性肌萎缩症（SMA）尚无治愈方法。基于现有的临床和分子研究结果，不同的治疗策略在体外和体内进行了测试，临床试验正在进行中。主要的治疗方向集中在通过提高全长（fl）SMN2转录水平、防止SMN外显子7跳跃或蛋白质稳定来增强SMN表达。此外，神经营养、神经保护或合成代谢药物的作用也在进行测试，干细胞和基因治疗方法正处于有前景的发展阶段。
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