Upregulation ofMTOR,RPS6KB1, andEIF4EBP1in the whole blood samples of Iranian patients with multiple sclerosis compared to healthy controls

Abstract

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, andEIFEBP1genes 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 ofMTOR, RPS6KB1, andEIFEBP1genes were assessed using Real-Time PCR. The expression ofMTOR,RPS6KB1, andEIF4EBP1genes 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 (allP < 0.001). However, no statistically significant changes were observed among male patients. Based on the receiver operating characteristic,MTORgene had the highest diagnostic value followed byEIF4EBP1andRPS6KB1genes in differentiating RRMS patients from controls. In conclusion, we found the simultaneous upregulation ofMTOR, RPS6KB1, andEIF4EBP1genes among RRMS patients.MTORshowed 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.