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Expression and Clinical Significance of Il7r, Nfatc2, and Rnf213 in Familial and Sporadic Multiple Sclerosis Publisher Pubmed



Imani SZH1 ; Hojati Z1 ; Khalilian S1 ; Dehghanian F1 ; Kheirollahi M2 ; Khorrami M2 ; Shaygannejad V3 ; Mirmosayyeb O3
Authors
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Authors Affiliations
  1. 1. Division of Genetics, Department of Cell and Molecular Biology and Microbiology, Faculty of Biological Sciences and Technologies, University of Isfahan, Isfahan, 81746-73441, Iran
  2. 2. Department of Genetics and Molecular Biology, Research Institute for Primordial Prevention of Non-Communicable Disease, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran
  3. 3. Isfahan Neuroscience Research Center, Isfahan University of Medical Sciences, Isfahan, Iran

Source: Scientific Reports Published:2021


Abstract

Multiple sclerosis (MS) is a chronic inflammatory and autoimmune disorder of the central nervous system characterized by myelin loss and axonal dysfunction. Increased production of inflammatory factors such as cytokines has been implicated in axon destruction. In the present study, we compared the expression level of IL7R, NFATc2, and RNF213 genes in the peripheral blood of 72 MS patients (37 familial MS, 35 sporadic MS) and 74 healthy controls (34 individuals with a family history of the disease, 40 healthy controls without a family history) via Real-time PCR. Our results showed that the expression level of IL7R was decreased in the sporadic patients in comparison with other groups. Additionally, there was an increased NFATc2 expression level in MS patients versus healthy controls. Increased expression of NFATc2 in sporadic and familial groups compared to the controls, and familial group versus FDR was also seen. Our results also represented an increased expression level of RNF213 in familial patients as compared to the control group. The similar RNF213 expression between sporadic and control group, as well as FDR and familial group was also seen. Diagnostic evaluation was performed by receiver operating characteristic (ROC) curve analysis and area under the curve (AUC) calculation. The correlation of clinical parameters including onset age and Expanded Disability Status Scale (EDSS) with our gene expression levels were also assessed. Overall, decreased expression level of IL7R in the sporadic cases and increased expression level of NFATc2 may be associated with the pathogenesis of MS disease. Confirmation of the effects of differential expression of RNF213 gene requires further studies in the wider statistical populations. © 2021, The Author(s).
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