Vincentiis Silvia, Alcantara Juliana, Rzezak Patricia, Kerr Daniel, Dos Santos Bernardo, Alessi Ruda, van der Linden Helio, Arruda Francisco, Chaim-Avancini Tiffany, Serpa Mauricio, Busatto Geraldo, Gattaz Wagner, Demarque Renata, Valente Kette D
Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, SP, Brazil; Faculdade de Medicina FMUSP, Universidade de Sao Paulo, Sao Paulo, SP, Brazil.
Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, SP, Brazil; Faculdade de Medicina FMUSP, Universidade de Sao Paulo, Sao Paulo, SP, Brazil.
Epilepsy Res. 2019 Jan;149:26-29. doi: 10.1016/j.eplepsyres.2018.11.003. Epub 2018 Nov 12.
There is evidence of an imbalance in the neuromodulatory system mediated by serotonin (5-HT) in patients with drug-resistant temporal lobe epilepsy (TLE). This study analyzed the monoamine oxidase A promoter variable number of tandem repeats (MAOA-uVNTR) polymorphism in patients with temporal lobe epilepsy with hippocampal sclerosis (TLE-HS). Therefore, we assessed the association between this genetic variant and seizure predisposition and severity in patients with TLE-HS.
One hundred nineteen patients with TLE-HS and 113 healthy volunteers were assessed. First, we genotyped all individuals for the MAOA-uVNTR genetic polymorphism. Second, we compared patients and controls and evaluated clinical variants of epilepsy.
There was no difference between the TLE-HS and control groups regarding genotypic and allelic distributions of MAOA-uVNTR polymorphism (p = 1.000). Higher transcription alleles of the MAOA-uVNTR were associated with higher seizure frequency (p = 0.032) and bilateral tonic-clonic seizures (p = 0.016).
In a selected group of patients with TLE-HS, the polymorphism MAOA-uVNTR was associated with some aspects of epilepsy severity, namely seizure frequency and bilateral tonic-clonic seizures.
有证据表明，耐药性颞叶癫痫（TLE）患者中由血清素（5-HT）介导的神经调节系统存在失衡。本研究分析了海马硬化型颞叶癫痫（TLE-HS）患者中，单胺氧化酶A启动子可变串联重复序列（MAOA-uVNTR）多态性。因此，我们评估了这种基因变异与TLE-HS患者癫痫易感性和严重程度之间的关联。
对119例TLE-HS患者和113名健康志愿者进行评估。首先，对所有个体进行MAOA-uVNTR基因多态性基因分型。其次，比较患者和对照组，并评估癫痫的临床变异情况。
TLE-HS组和对照组在MAOA-uVNTR多态性的基因型和等位基因分布方面没有差异（p = 1.000）。MAOA-uVNTR的高转录等位基因与更高的癫痫发作频率（p = 0.032）和双侧强直阵挛性发作（p = 0.016）相关。
在一组选定的TLE-HS患者中，MAOA-uVNTR多态性与癫痫严重程度的某些方面相关，即癫痫发作频率和双侧强直阵挛性发作。
