Malaspina A, Kaushik N, de Belleroche J
Department of Neuromuscular Diseases, Division of Neuroscience and Psychological Medicine, Imperial College School of Medicine, London, UK.
J Neurochem. 2001 Apr;77(1):132-45. doi: 10.1046/j.1471-4159.2001.t01-1-00231.x.
In order to obtain insight into the aetiology and pathogenesis of amyotrophic lateral sclerosis (ALS), high-density gene discovery arrays (GDA human version 1.2) containing 18 400 non-redundant EST cDNAs pooled from different tissue libraries have been used to monitor gene expression in lumbar spinal cord from ALS cases compared with controls. Quantitative filter analysis revealed differential expression of cDNAs normalized to internal standards. These candidates have been further investigated and their expression in spinal cord characterized in a panel of ALS and control subjects. Significant differential expression was obtained for 14 genes, 13 being elevated (up to six-fold) and one decreased (by 80%) in ALS. Amongst those elevated in ALS were thioredoxin and glial fibrilary acid protein, which have already been shown to be up-regulated in ALS, thus supporting the reliability of this approach. The other differentially regulated transcripts confirmed in the expression studies represent potential candidates in ALS pathogenesis being involved in antioxidant systems, neuroinflammation, the regulation of motor neurone function, lipid metabolism, protease inhibition and protection against apoptosis. The use of the GDA system has greatly facilitated the screening and retrieval of sequence information and has generated useful information on the cascade of molecular events occurring in ALS and potentially may highlight new candidates playing a role in the aetiology and progression of this disease.
为深入了解肌萎缩侧索硬化症(ALS)的病因和发病机制,已使用包含从不同组织文库汇集的18400个非冗余EST cDNA的高密度基因发现阵列(GDA人类版本1.2)来监测ALS病例与对照的腰脊髓中的基因表达。定量滤膜分析揭示了相对于内参标准化后的cDNA的差异表达。这些候选基因已进一步研究,并在一组ALS患者和对照受试者中对其在脊髓中的表达进行了表征。在14个基因中获得了显著的差异表达,其中13个基因在ALS中表达升高(高达6倍),1个基因表达降低(降低80%)。在ALS中表达升高的基因包括硫氧还蛋白和胶质纤维酸性蛋白,它们已被证明在ALS中上调,从而支持了该方法的可靠性。在表达研究中得到证实的其他差异调节转录本代表了ALS发病机制中的潜在候选基因,它们参与抗氧化系统、神经炎症、运动神经元功能调节、脂质代谢、蛋白酶抑制和抗凋亡保护。GDA系统的使用极大地促进了序列信息的筛选和检索,并生成了关于ALS中发生的分子事件级联的有用信息,并且可能突出在该疾病的病因和进展中起作用的新候选基因。