脊髓性肌萎缩症（SMN）在小鼠和人类中的研究进展：一个治疗机会。
Of SMN in mice and men: a therapeutic opportunity.
出版信息
J Clin Invest. 2011 Aug;121(8):2978-81. doi: 10.1172/JCI58752. Epub 2011 Jul 25.
Abstract
Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease that predominantly affects motor neurons, resulting in progressive muscular atrophy and weakness. SMA arises due to insufficient survival motor neuron (SMN) protein levels as a result of homozygous disruption of the SMN1 gene. SMN upregulation is a promising and potent treatment strategy for this currently incurable condition. In this issue of the JCI, two independent research groups report novel observations in mouse models of severe SMA that provide hope that this approach will afford meaningful benefit to individuals with SMA.
摘要
脊髓性肌萎缩症（SMA）是一种常染色体隐性神经退行性疾病，主要影响运动神经元，导致进行性肌肉萎缩和无力。SMA 是由于生存运动神经元（SMN）基因纯合缺失导致 SMN 蛋白水平不足引起的。SMN 上调是治疗这种目前无法治愈疾病的一种很有前途且有效的治疗策略。在本期 JCI 中，两个独立的研究小组报告了严重 SMA 小鼠模型中的新观察结果，这为这种方法能为 SMA 患者带来有意义的益处提供了希望。
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3
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4
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