Lefebvre S, Bürglen L, Frézal J, Munnich A, Melki J
Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U393, IFREM, Institut Necker, Hôpital des Enfants Malades, 149 rue de Sèvres, 75743 Paris cedex 15, France.
Hum Mol Genet. 1998;7(10):1531-6. doi: 10.1093/hmg/7.10.1531.
Childhood spinal muscular atrophy (SMA) is a common recessive autosomal disorder that results in degeneration of lower motor neurons. The identification of the disease gene, Survival of Motor Neuron (SMN), was a major advance in understanding the molecular basis underlying this devastating neuromuscular disease. This finding has greatly improved the genetic counselling of SMA families. Recently, biochemical studies demonstrated its involvement in the biogenesis of spliceosomal snRNPs, suggesting a critical role of SMN in RNA processing. Surprisingly, other studies showed a putative role of SMN in an anti-apoptotic pathway involving Bcl-2. The function of SMN protein is not fully understood. These observations emphasized the difficulty in elucidating the function of any novel protein. Therefore, multidisciplinary approaches are required to understand the pathogenesis of SMA.
儿童脊髓性肌萎缩症（SMA）是一种常见的隐性常染色体疾病，会导致下运动神经元退化。疾病基因运动神经元存活蛋白（SMN）的鉴定是在理解这种毁灭性神经肌肉疾病的分子基础方面取得的一项重大进展。这一发现极大地改善了SMA家族的遗传咨询。最近，生化研究表明它参与剪接体小核核糖核蛋白（snRNP）的生物合成，提示SMN在RNA加工中起关键作用。令人惊讶的是，其他研究显示SMN在涉及Bcl-2的抗凋亡途径中可能发挥作用。SMN蛋白的功能尚未完全明了。这些观察结果凸显了阐明任何新蛋白功能的困难。因此，需要采用多学科方法来理解SMA的发病机制。
