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鉴定和验证局灶性皮质发育不良致痫过程中的关键分子。

Identification and verification of key molecules in the epileptogenic process of focal cortical dysplasia.

机构信息

Department of Neurology, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Pediatrics, Children's Hospital of Chongqing Medical University, Chongqing, 400014, China.

Department of Neurology, Children's Hospital of Chongqing Medical University, Chongqing, 40014, China.

出版信息

Metab Brain Dis. 2024 Nov 29;40(1):47. doi: 10.1007/s11011-024-01426-4.

Abstract

Focal cortical dysplasia (FCD) represents a common developmental malformation associated with drug-resistant epilepsy (DRE) among children. However, the exact molecular mechanisms behind this condition are still unclear. In our study, FCD-associated microarray data from the Gene Expression Omnibus (GEO) database were analyzed. A comprehensive series of bioinformatics analyses were conducted, including screening for differentially expressed genes (DEGs), functional enrichment analysis, weighted gene co-expression network analysis (WGCNA), and protein-protein interaction (PPI) analysis. Subsequently, a freezing lesion (FL) rat model was developed to validate expression levels of hub genes along with the molecular pathways behind FCD epileptogenicity. 320 DEGs were identified, and functional enrichment analysis revealed significant enrichment of these DEGs in "Neuroinflammatory response", "Cytokine production involved in immune response", and "Macrophage activation". Ultimately, 5 potential hub genes (CYBB, ITGAM, FCG3A, LY86, and CD86) were pinpointed. Notably, 4 hub genes (CYBB, ITGAM, FCG3A, and CD86) were validated in in vivo experiments, suggesting possible associations with neuroinflammation triggered by microglia. This underscores the tight relationship between microglia-induced neuroinflammation and the pathological progression of epileptic seizures in FCD. ITGAM, FCG3A, CD86, CYBB, and LY86 may emerge as promising candidate biomarkers, influencing diagnostic and therapeutic strategies.

摘要

局灶性皮质发育不良(FCD)是儿童耐药性癫痫(DRE)相关的一种常见发育性畸形。然而,其背后的确切分子机制仍不清楚。在我们的研究中,分析了来自基因表达综合数据库(GEO)的与 FCD 相关的微阵列数据。进行了一系列全面的生物信息学分析,包括筛选差异表达基因(DEGs)、功能富集分析、加权基因共表达网络分析(WGCNA)和蛋白质-蛋白质相互作用(PPI)分析。随后,建立了冷冻损伤(FL)大鼠模型,以验证与 FCD 致痫性相关的关键基因及其分子途径的表达水平。鉴定出 320 个 DEGs,功能富集分析表明这些 DEGs 在“神经炎症反应”、“细胞因子产生参与免疫反应”和“巨噬细胞激活”中显著富集。最终,确定了 5 个潜在的关键基因(CYBB、ITGAM、FCG3A、LY86 和 CD86)。值得注意的是,在体内实验中验证了 4 个关键基因(CYBB、ITGAM、FCG3A 和 CD86),提示其与小胶质细胞引发的神经炎症有关。这突显了微胶质细胞诱导的神经炎症与 FCD 中癫痫发作的病理进展之间的紧密关系。ITGAM、FCG3A、CD86、CYBB 和 LY86 可能成为有前途的候选生物标志物,影响诊断和治疗策略。

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