Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, PO Box 1985717443, Tehran, Iran.
Clinical Research Development Center (CRDU), Qom University of Medical Sciences, Qom, Iran.
Neurol Sci. 2018 Nov;39(11):1945-1953. doi: 10.1007/s10072-018-3533-9. Epub 2018 Aug 23.
Epilepsy is a brain disorder with a global prevalence of 1%. It has been attributed to genetics and environmental factors. Despite efforts to identify the molecular pathology of epilepsy, the underlying mechanism is not understood yet. This study was carried out to compare GRIN2B, BDNF, and IL-1β gene expressions in 50 patients suffering from generalized epilepsy with tonic-colonic seizures and 50 age- and sex-matched healthy subjects using TaqMan Real-time PCR. Our results demonstrated significant upregulation of these genes in people with epilepsy compared with healthy subjects. We also found a positive correlation between GRIN2B and BDNF expression (r=0.4619, p < 0.0001), BDNF and IL-1β expression (r = 0.515, p < 0.0001), and GRIN2B and IL-1β gene expressions (r = 0.666, p < 0.0001) which implies the possibility to estimate the expression level of these genes by assessment of expression of one of them. Considering the results of the previous animal studies which showed upregulation of these genes in brain tissues of epileptic animals, the expression levels of GRIN2B, BDNF, and IL-1β in blood samples might be related to their expression in brain samples. Future studies are needed to assess the role of these genes in the pathogenesis of epilepsy and evaluate whether altered expression of these genes along with imaging methods can facilitate subtyping the epilepsy.
癫痫是一种具有全球 1%患病率的脑部疾病。它归因于遗传和环境因素。尽管人们努力确定癫痫的分子病理学,但潜在机制尚未被理解。本研究旨在使用 TaqMan 实时 PCR 比较 50 名患有全面性癫痫伴强直阵挛发作的患者和 50 名年龄和性别匹配的健康对照者的 GRIN2B、BDNF 和 IL-1β 基因表达。我们的结果表明,与健康对照组相比,癫痫患者这些基因的表达显著上调。我们还发现 GRIN2B 和 BDNF 表达之间存在正相关(r=0.4619,p<0.0001),BDNF 和 IL-1β 表达之间存在正相关(r=0.515,p<0.0001),GRIN2B 和 IL-1β 基因表达之间存在正相关(r=0.666,p<0.0001),这表明通过评估其中一种基因的表达可以估计这些基因的表达水平。考虑到先前动物研究的结果表明这些基因在癫痫动物的脑组织中上调,因此血液样本中 GRIN2B、BDNF 和 IL-1β 的表达水平可能与其在脑组织中的表达有关。需要进一步的研究来评估这些基因在癫痫发病机制中的作用,并评估这些基因的表达改变是否与成像方法一起有助于癫痫的亚型分类。