Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy.
Mol Med. 2012 Sep 25;18(1):1076-85. doi: 10.2119/molmed.2012.00056.
Spinal muscular atrophy (SMA) is an inherited neurodegenerative disorder and the first genetic cause of death in childhood. SMA is caused by low levels of survival motor neuron (SMN) protein that induce selective loss of α-motor neurons (MNs) in the spinal cord, resulting in progressive muscle atrophy and consequent respiratory failure. To date, no effective treatment is available to counteract the course of the disease. Among the different therapeutic strategies with potential clinical applications, the evaluation of trophic and/or protective agents able to antagonize MNs degeneration represents an attractive opportunity to develop valid therapies. Here we investigated the effects of IPLEX (recombinant human insulinlike growth factor 1 [rhIGF-1] complexed with recombinant human IGF-1 binding protein 3 [rhIGFBP-3]) on a severe mouse model of SMA. Interestingly, molecular and biochemical analyses of IGF-1 carried out in SMA mice before drug administration revealed marked reductions of IGF-1 circulating levels and hepatic mRNA expression. In this study, we found that perinatal administration of IPLEX, even if does not influence survival and body weight of mice, results in reduced degeneration of MNs, increased muscle fiber size and in amelioration of motor functions in SMA mice. Additionally, we show that phenotypic changes observed are not SMN-dependent, since no significant SMN modification was addressed in treated mice. Collectively, our data indicate IPLEX as a good therapeutic candidate to hinder the progression of the neurodegenerative process in SMA.
脊髓性肌萎缩症(SMA)是一种遗传性神经退行性疾病,也是儿童期死亡的首要遗传原因。SMA 是由于生存运动神经元(SMN)蛋白水平降低而引起的,这种蛋白会导致脊髓中的α运动神经元(MNs)选择性丧失,从而导致进行性肌肉萎缩和随后的呼吸衰竭。迄今为止,尚无有效的治疗方法可以逆转疾病进程。在具有潜在临床应用的不同治疗策略中,评估能够拮抗 MNs 变性的营养和/或保护剂是开发有效疗法的一个有吸引力的机会。在这里,我们研究了 IPLEX(重组人胰岛素样生长因子 1 [rhIGF-1]与重组人 IGF-1 结合蛋白 3 [rhIGFBP-3]复合物)对严重的 SMA 小鼠模型的影响。有趣的是,在给予药物之前对 SMA 小鼠进行的 IGF-1 分子和生化分析显示,IGF-1 的循环水平和肝 mRNA 表达明显降低。在这项研究中,我们发现,即使 IPLEX 的围产期给药不会影响小鼠的存活和体重,也会导致 MNs 的变性减少、肌肉纤维大小增加,并改善 SMA 小鼠的运动功能。此外,我们表明,观察到的表型变化不是 SMN 依赖性的,因为在治疗的小鼠中没有解决明显的 SMN 修饰。总之,我们的数据表明 IPLEX 是一种很好的治疗候选药物,可以阻止 SMA 中神经退行性过程的进展。