Functional alteration of astrocytes induced by GFAP mutation and the modified factors

Alexander病是一种罕见的神经退行性疾病，由编码胶质纤维酸性蛋白(GFAP)的突变引起。为了确定突变型GFAP对胶质细胞功能改变的修饰因素，我们利用细胞模型或患者的DNA进行了微阵列分析、实时定量聚合酶链式反应或GFAP启动子基因分析。提示αB-晶状体蛋白在突变型胶质纤维酸性蛋白细胞中可能起重要作用，其启动子基因调控的胶质纤维酸性蛋白表达的改变可能改变临床病程。我们还制备了通过诱导GFAP基因构建的Drosopia模型，作为一种新的疾病模型。

Alexander disease is a rare neurodegenerative disease caused by the mutations encoding glial fibrillary acidic protein(GFAP). To identify modified factors to clarify functional alteration of glial cells with mutant GFAP, we performed microarray analysis, real-time PCR or GFAP promoter gene analysis using cell models or patient's DNA. These studies indicated αB-crystallin may play an important role in mutant GFAP cells and the alteration of GFAP expression controlled by GFAP promoter gene may modify the clinical course. We also prepared Drosophia model constructed by inducing GFAP gene as a new disease model.