基于生物信息学方法筛选脑局灶性皮质发育不良致痫灶的生物标记物

The screening of potential biological markers of seizure onset zone in focal cortical dysplasia based on bioinformatics analysis

本研究纳入2020年9—11月就诊于北京大学第一医院的脑局灶性皮质发育不良(FCD)患者共3例,利用立体定向脑电图(SEEG)或皮质脑电图(ECoG)确定致痫灶,留取患者手术标本中致痫灶及灶旁对照组织,进行RNA-seq测序,对差异表达基因进行Go分析及KEGG信号通路富集分析。差异表达基因中,编码细胞外基质,特别是胶原成分相关的基因如COL1A1等存在显著差异表达;KEGG分析提示差异表达基因主要富集于醚酯代谢相关信号通路。FCD患者中致痫灶和自身对照组织相比,细胞外基质合成(特别是胶原成分)及醚酯代谢等生物过程存在差异,可以作为潜在的致痫灶生物标记物。

Three patients diagnosed with focal cortical dysplasia(FCD)in the First Hospital of Peking University from September to November 2020 were recruited in the study.Based on stereotactic electroencephalogram(SEEG)or electrocorticogram(ECoG)analysis to localize the seizure onset zone(SOZ),RNA sequencing(RNA-seq)analysis was performed for the SOZ and para-SOZ tissue obtained from surgery.The differentially expressed genes between SOZ and para-SOZ samples were analyzed by performing Go(Gene ontology)analysis and Kyoto Encyclopedia of Genes and Genomes(KEGG)pathway enrichment analysis."Extracellular matrix"was significantly enriched,which included collagen synthesis genes(e.g.,COL1A1)."Ether lipid metabolism"was enriched in the KEGG pathway enrichment analysis.These differences could be the potential biological markers for SOZ localization.