Various genetic and epigenetic mechanisms have been suggested to play roles as the underlying pathophysiology of Multiple Sclerosis (MS). Changes in different parts of the mTOR signaling pathway are among the potential suggested mechanisms based on the specific roles of this pathway in CNS. MTOR, RPS6KB1, and EIFEBP1 genes are among important genes in the mTOR pathway, responsible for the proper function of acting proteins in this signaling pathway. This study aimed to investigate the relative expression levels of these genes in the blood samples of relapsing-remitting MS (RRMS) patients compared to healthy controls. In this case-control study blood samples were collected from 30 newly diagnosed RRMS patients and 30 age and sex-matched healthy controls. mRNA level of MTOR, RPS6KB1, and EIFEBP1 genes were assessed using Real-Time PCR. The expression of MTOR, RPS6KB1, and EIF4EBP1 genes was up regulated in MS patients compared to healthy controls (p < 0.001 for all mentioned genes). Considering gender differences, expression of the mentioned genes was increased among female patients (all P < 0.001). However, no statistically significant changes were observed among male patients. Based on the receiver operating characteristic, MTOR gene had the highest diagnostic value followed by EIF4EBP1 and RPS6KB1 genes in differentiating RRMS patients from controls. In conclusion, we found the simultaneous upregulation of MTOR, RPS6KB1, and EIF4EBP1 genes among RRMS patients. MTOR showed to have the highest diagnostic value compared to other 2 genes in differentiating RRMS patients. Further studies evaluating the importance of these findings from pharmacological and prognostic perspectives are necessary.

已提出各种遗传和表观遗传机制作为多发性硬化症 (MS) 的潜在病理生理学发挥作用。mTOR 信号通路不同部分的变化是基于该通路在 CNS 中的特定作用的潜在建议机制之一。MTOR、RPS6KB1和EIFEBP1基因是 mTOR 通路中的重要基因，负责该信号通路中作用蛋白的正常功能。本研究旨在调查与健康对照相比，复发缓解型 MS (RRMS) 患者血液样本中这些基因的相对表达水平。在这项病例对照研究中，从 30 名新诊断的 RRMS 患者和 30 名年龄和性别匹配的健康对照中收集了血液样本。mRNA 水平使用实时PCR评估MTOR、RPS6KB1和EIFEBP1基因。与健康对照相比，MS 患者中MTOR、RPS6KB1和EIF4EBP1基因的表达上调（ 所有提到的基因p < 0.001）。考虑到性别差异，上述基因在女性患者中的表达增加（均P  < 0.001）。然而，在男性患者中没有观察到统计学上的显着变化。根据受试者工作特征，MTOR基因的诊断价值最高，其次是EIF4EBP1和RPS6KB1将 RRMS 患者与对照组区分开来的基因。总之，我们发现RRMS 患者中MTOR、RPS6KB1和EIF4EBP1基因同时上调。与其他 2 个基因相比，MTOR在区分 RRMS 患者方面显示出最高的诊断价值。从药理学和预后角度评估这些发现的重要性的进一步研究是必要的。