Correlation between severity and SMN protein level in spinal muscular atrophy
Correlation between severity and SMN protein level in spinal muscular atrophy
复制标题
DOI：
10.1038/ng0797-265
复制
发表时间：
1997-07-01
期刊：
影响因子：
30.8
通讯作者：
Melki, J
中科院分区：
文献类型：
--
作者：
Lefebvre, S;Burlet, P;Melki, J
脊髓性肌萎缩症（SMA）是一种常见的常染色体隐性遗传性神经肌肉疾病，以脊髓运动神经元变性为特征。根据发病年龄和临床病程，儿童SMA有三种不同形式：Werdnig-Hoffmann病（I型）、中间型（II型）和Kugelberg-Welander病（III型）1。运动神经元存活基因（survival of motor neuron，SMN）被认为是SMA 2 - 6的致病基因，它编码一种位于核内的蛋白质，与RNA结合蛋白相互作用7。为了阐明疾病发病机制的分子机制，我们通过免疫印迹和免疫组织化学分析，使用针对SMN蛋白的抗体，检测了对照组和SMA患者中SMN基因的表达。本研究显示SMA中SMN蛋白明显缺乏。
Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder characterized by degeneration of motor neurons of the spinal cord. Three different forms of childhood SMA have been recognized on the basts of age at onset and clinical course: Werdnig-Hoffmann disease (type l), the intermediate form (type II) and Kugelberg-Welander disease (type III)1. A gene termed ‘survival of motor neuron’ (SMN) has been recognized as the disease-causing gene in SMA2–6.SMNencodes a protein located within a novel nuclear structure and interacts with RNA-binding proteins7. To elucidate the molecular mechanism underlying the pathogenesis of the disease, we examined the expression of theSMNgene in both controls and SMA patients by western blot and immunohistochemical analyses using antibodies raised against the SMN protein. The present study shows a marked deficiency of the SMN protein in SMA.