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Abstract
Alterations in the regulatory mechanisms that control the process of myelination in the nervous system, may lead to the impaired myelination in the Multiple sclerosis. The Hippo pathway is an important mediator of myelination in the nervous system and might contribute to the pathophysiology of MS. This study examined via qPCR the RNA expression of YAP1, TAZ, and CRB3 as the key effectors of the Hippo pathway and also, VDR in the peripheral blood of 35 sporadic, 37 familial MS patients; and also 34 healthy first-degree relatives of the familial MS patients (HFR) and 40 healthy individuals without a family history of the disease (control). The results showed the increased expression of VDR in the sporadic group, as compared to other groups. There was also an increased expression of TAZ in the familial and HFR groups, as compared to the control group. The familial and sporadic patients displayed a significantly lower level of expression of YAP1 in comparison to the HFR group. The increased expression level in the sporadic patients and control group, as compared to the HFR group, was seen in CRB3. We also assessed different clinical parameters and MRI characteristics of the patients. Overall, these findings suggest that Hippo pathway effectors and also VDR gene may play a potential role in the pathophysiology of the sporadic and familial forms of MS. Confirmation of different gene expression patterns in sporadic and familial MS groups may have obvious implications for the personalization of therapies in the disease.
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Details
1 University of Isfahan, Division of Genetics, Department of Cell and Molecular Biology and Microbiology, Faculty of Biological Sciences and Technologies, Isfahan, Iran (GRID:grid.411750.6) (ISNI:0000 0001 0454 365X)
2 Isfahan University of Medical Sciences, Isfahan Neuroscience Research Center, Isfahan, Iran (GRID:grid.411036.1) (ISNI:0000 0001 1498 685X)
3 Isfahan University of Medical Sciences, Research Institute for Primordial Prevention of Non-Communicable Disease and Department of Genetics and Molecular Biology, School of Medicine, Isfahan, Iran (GRID:grid.411036.1) (ISNI:0000 0001 1498 685X)