Moreira-Filho Carlos Alberto, Bando Silvia Yumi, Bertonha Fernanda Bernardi, Iamashita Priscila, Silva Filipi Nascimento, Costa Luciano da Fontoura, Silva Alexandre Valotta, Castro Luiz Henrique Martins, Wen Hung-Tzu
Department of Pediatrics, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, SP, Brazil.
Instituto de Física de São Carlos, Universidade de São Paulo, São Carlos, SP, Brazil.
PLoS One. 2015 May 26;10(5):e0128174. doi: 10.1371/journal.pone.0128174. eCollection 2015.
Age at epilepsy onset has a broad impact on brain plasticity and epilepsy pathomechanisms. Prolonged febrile seizures in early childhood (FS) constitute an initial precipitating insult (IPI) commonly associated with mesial temporal lobe epilepsy (MTLE). FS-MTLE patients may have early disease onset, i.e. just after the IPI, in early childhood, or late-onset, ranging from mid-adolescence to early adult life. The mechanisms governing early (E) or late (L) disease onset are largely unknown. In order to unveil the molecular pathways underlying E and L subtypes of FS-MTLE we investigated global gene expression in hippocampal CA3 explants of FS-MTLE patients submitted to hippocampectomy. Gene coexpression networks (GCNs) were obtained for the E and L patient groups. A network-based approach for GCN analysis was employed allowing: i) the visualization and analysis of differentially expressed (DE) and complete (CO) - all valid GO annotated transcripts - GCNs for the E and L groups; ii) the study of interactions between all the system's constituents based on community detection and coarse-grained community structure methods. We found that the E-DE communities with strongest connection weights harbor highly connected genes mainly related to neural excitability and febrile seizures, whereas in L-DE communities these genes are not only involved in network excitability but also playing roles in other epilepsy-related processes. Inversely, in E-CO the strongly connected communities are related to compensatory pathways (seizure inhibition, neuronal survival and responses to stress conditions) while in L-CO these communities harbor several genes related to pro-epileptic effects, seizure-related mechanisms and vulnerability to epilepsy. These results fit the concept, based on fMRI and behavioral studies, that early onset epilepsies, although impacting more severely the hippocampus, are associated to compensatory mechanisms, while in late MTLE development the brain is less able to generate adaptive mechanisms, what has implications for epilepsy management and drug discovery.
癫痫发作起始年龄对脑可塑性和癫痫发病机制有广泛影响。幼儿期的长时间热性惊厥(FS)构成一种常见于内侧颞叶癫痫(MTLE)的初始促发损伤(IPI)。FS-MTLE患者可能在幼儿期IPI后不久就出现疾病早期发作,或者从青春期中期到成年早期出现迟发性发作。早期(E)或晚期(L)疾病发作的机制在很大程度上尚不清楚。为了揭示FS-MTLE的E型和L型亚型潜在的分子途径,我们研究了接受海马切除术的FS-MTLE患者海马CA3外植体中的全局基因表达。获得了E组和L组患者的基因共表达网络(GCN)。采用基于网络的GCN分析方法,允许:i)可视化和分析E组和L组差异表达(DE)和完整(CO)——所有有效的GO注释转录本——GCN;ii)基于社区检测和粗粒度社区结构方法研究系统所有成分之间的相互作用。我们发现,连接权重最强的E-DE社区包含高度连接的基因,主要与神经兴奋性和热性惊厥相关,而在L-DE社区中,这些基因不仅参与网络兴奋性,还在其他癫痫相关过程中发挥作用。相反,在E-CO中,连接紧密的社区与代偿途径(癫痫发作抑制、神经元存活和对应激条件的反应)相关,而在L-CO中,这些社区包含几个与癫痫促发效应、癫痫发作相关机制和癫痫易感性相关的基因。这些结果符合基于功能磁共振成像和行为研究的概念,即早期发作的癫痫虽然对海马体影响更严重,但与代偿机制相关,而在晚期MTLE发展过程中,大脑产生适应性机制的能力较弱,这对癫痫管理和药物发现具有重要意义。