OBJECTIVE The objective of the study was to evaluate the neurocognitive profile and its relation with Ala16ValMnSOD polymorphism in epilepsy and if these clinical parameters are linked to oxidative stress and inflammatory markers. METHODS Patients with epilepsy (n = 31) and healthy subjects (n = 42) were recruited. A neuropsychological evaluation was performed in both groups through a battery of cognitive tests. Oxidative stress, inflammatory markers, apoptotic factors, and deoxyribonucleic acid (DNA) damage were measured in blood samples. RESULTS Statistical analyses showed the association of MnSOD Ala16Val polymorphism with cognitive impairment, including praxis, perception, attention, language, executive functions, long-term semantic memory, short-term visual memory, and total memory in patients with epilepsy and Valine-Valine (VV) genotype compared with the control group. Compared with the controls and patients with epilepsy, Alanine-Alanine (AA), and Alanine-Valine (AV) genotype, the patients with epilepsy and VV genotype exhibited higher levels of tumor necrosis factor alpha (TNF-α), interleukin 1β (IL-1β), interleukin 6 (IL-6), activation of caspases 1 and 3 (CASP-1 and -3), and DNA damage. Our findings also showed higher carbonyl protein and thiobarbituric acid reactive substances (TBARS) levels as well as an increased superoxide dismutase (SOD) and acetylcholinesterase (AChE) activities in patients with epilepsy and VV genotype. CONCLUSION This study supports the evidence of a distinct neuropsychological profile in patients with epilepsy, especially those with the VV genotype. Furthermore, our results suggest that oxidative and inflammatory pathways may be associated with genetic polymorphism and cognitive dysfunction in patients with epilepsy.

中文翻译：

---

MnSOD Ala16Val 多态性在癫痫患者认知功能障碍中的作用：与氧化和炎症标志物的关系

目的 本研究的目的是评估癫痫患者的神经认知特征及其与 Ala16ValMnSOD 多态性的关系，以及这些临床参数是否与氧化应激和炎症标志物有关。方法 癫痫患者 (n = 31) 和健康受试者 (n = 42) 被招募。通过一系列认知测试对两组进行神经心理学评估。测量血液样本中的氧化应激、炎症标志物、凋亡因子和脱氧核糖核酸 (DNA) 损伤。结果 统计分析显示 MnSOD Ala16Val 多态性与认知障碍相关，包括实践、知觉、注意力、语言、执行功能、长期语义记忆、短期视觉记忆、与对照组相比，癫痫和缬氨酸-缬氨酸（VV）基因型患者的总记忆力和总记忆力。与对照组和癫痫患者、丙氨酸-丙氨酸（AA）和丙氨酸-缬氨酸（AV）基因型相比，癫痫和VV基因型患者的肿瘤坏死因子α（TNF-α）、白细胞介素1β（IL -1β)、白细胞介素 6 (IL-6)、半胱天冬酶 1 和 3 (CASP-1 和 -3) 的激活以及 DNA 损伤。我们的研究结果还显示癫痫和 VV 基因型患者的羰基蛋白和硫代巴比妥酸反应物质 (TBARS) 水平以及超氧化物歧化酶 (SOD) 和乙酰胆碱酯酶 (AChE) 活性增加。结论 本研究支持癫痫患者，尤其是具有 VV 基因型患者的独特神经心理学特征的证据。此外，