苯丁酸钠可增加脊髓性肌萎缩症患者的SMN基因表达。
Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients.
作者信息
Brahe Christina, Vitali Tiziana, Tiziano Francesco D, Angelozzi Carla, Pinto Anna Maria, Borgo Federica, Moscato Umberto, Bertini Enrico, Mercuri Eugenio, Neri Giovanni
机构信息
Istituto di Genetica Medica, Università Cattolica S Cuore, Largo F Vito, 1, 00168 Rome, Italy.
出版信息
Eur J Hum Genet. 2005 Feb;13(2):256-9. doi: 10.1038/sj.ejhg.5201320.
Spinal muscular atrophy (SMA) is caused by insufficient levels of survival motor neuron (SMN) protein. Recently, we found that sodium 4-phenylbutyrate (PB), a well-tolerated FDA approved drug, enhances SMN gene expression in vitro. We provide here the first evidence that oral administration of PB (triButyrate significantly increases SMN expression in leukocytes of SMA patients. This finding provides a strong rationale to further investigate the effects of PB as also supported by preliminary clinical data.
脊髓性肌萎缩症（SMA）是由存活运动神经元（SMN）蛋白水平不足引起的。最近，我们发现4-苯基丁酸钠（PB），一种FDA批准的耐受性良好的药物，在体外可增强SMN基因表达。我们在此提供首个证据，即口服PB（三丁酸甘油酯）可显著增加SMA患者白细胞中的SMN表达。这一发现为进一步研究PB的作用提供了有力的理论依据，初步临床数据也支持这一点。
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