Nusinersen in the treatment of 5q spinal muscular atrophy (Sponsor: Biogen GmbH, München)

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Abstract

Abstract Due to a mutation in the SMN1 gene on chromosome 5, in 5q-SMA there is a deficiency in the survival of motor neuron protein (SMA) which is essential for motor neurons. This leads to a degeneration of the 2nd motor neuron and progressive weakness and atrophy of the affected muscles. The targeted splicing modulator nusinersen (Spinraza®), an antisense oligonucleotide that binds to the SMN2-RNA, leads to increased production of functional SMN protein. This stabilizes the disease and improves muscle function.
Nusinersen用于治疗5q脊髓性肌萎缩症(赞助商:Biogen GmbH, m nchen)
由于5号染色体上SMN1基因的突变,5q-SMA缺乏运动神经元所必需的运动神经元蛋白(SMA)的存活。这导致第二运动神经元的退化以及受影响肌肉的进行性无力和萎缩。靶向剪接调节剂nusinersen (Spinraza®)是一种与SMN2-RNA结合的反义寡核苷酸,可增加功能性SMN蛋白的产生。这样可以稳定病情,改善肌肉功能。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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