实用医学杂志2016，Vol.32Issue(3)：347-351,5.DOI:10.3969/j.issn.1006-5725.2016.03.003
局灶性皮质发育不良基因表达及相关信号通路分析
The analysis of gene expression profile and related signal pathways in focal cortical dysplasia
摘要
Abstract
Objective To investigate the potential pathogenesis of Focal cortical dysplasia (FCD), we performed cDNA microarray analysis to obtain gene expression profile of FCD. Methods Three FCD samples and three normal controls were enrolled. Total RNA of the brain tissues were extracted. The difference gene expressions between FCD group and control group was detected using Affymetrix gene chip. The up and down-regulated genes were confirmed by Real-time PCR. Further, the related signal pathways involved in the pathogenic mechanisms of FCD were predicted by bioinformatics. Result In FCD, two up-regulated genes C21orF2 and AU152162 and 5 down-regulated genes ENPP2, ANLN, IP6K3, UGT8, and AZGP were found. Compared the FCD samples with the normal controls , there were significantly different in all down-regulated genes (P < 0.05), while the up-regulated genes were not (P > 0.05). Using bioinformatics analysis, the ENPP2 , UGT8 , and AZGP1 protein which located in the cell membrane or secreted into the extracellular matrix may be involved in the formation of the myelin sheath and the development of the nervous system by the lipid metabolism and LPA signaling pathway. Conclusion ENPP2, UGT8 and AZGP1 may be involved in pathogenesis of FCD through the process of myelin sheath formation and LPA signal pathway , which warrants further study to know their roles in the pathogenesis of FCD.关键词
局灶皮质发育不良/基因表达/溶血磷脂酸/信号通路/髓鞘Key words
Focal cortical dysplasia/Gene expression/Lysophosphatidic acid/Signal pathway/Myelin引用本文复制引用
华立栋,李文斌,高曲文,隋立森,范翠霞,欧阳小明,廖卫平,黎冰梅,石奕武..局灶性皮质发育不良基因表达及相关信号通路分析[J].实用医学杂志,2016,32(3):347-351,5.基金项目
广州市科技计划项目（编号2014J4100069）；广东省医学科研基金项目（编号A2013268）；首都医科大学省部级重点实验室开放研究课题 （）
