Journal of Molecular Neuroscience

, Volume 64, Issue 4, pp 551–558 | Cite as

Expression Analysis of Vitamin D Signaling Pathway Genes in Epileptic Patients

  • Mehrdokht Mazdeh
  • Soudeh Ghafouri-Fard
  • Mahsa Hatami
  • Mohammad Mahdi Eftekharian
  • Maziar Ganji
  • Arezou Sayad
  • Shahram Arsang-Jang
  • Mohammad TaheriEmail author
  • Mir Davood OmraniEmail author


Vitamin D deficiency has been detected in epileptic patients. Vitamin D participates in neuroprotection, brain cell proliferation, and differentiation. Consequently, vitamin D supplementation has been suggested as an alternative treatment in epileptic patients. We aimed at assessment of vitamin D signaling pathway in epileptic patients. In the present study, we evaluated vitamin D serum concentration as well as expression of vitamin D receptor (VDR) gene and genes encoding for vitamin D activating enzyme 1-alpha-hydroxylase (CYP27B1) and deactivating enzyme 24-hyroxylase (CYP24A1) in epileptic patients compared with healthy individuals. We found significant lower levels of vitamin D in epileptic patients compared with healthy subjects. Expression analyses showed significant downregulation of VDR expression in peripheral blood of epileptic patients compared with healthy subjects (relative expression (REx) = 0.16, P < 0.001). However, there was no significant difference in CYP24A1 expression between epileptic patients and normal subjects. CYP27B1 expression analysis showed significant upregulation in male patients aged between 30 and 40 (REx = 5.43, P = 0.013). After using two-way ANCOVA for adjusting the effects of sex and age, there was a statistically significant difference in the VDR expression values between patient and control groups (P < 0.001). Spearman’s correlation analysis showed no significant correlation between genes expression levels and patients’ age or vitamin D serum concentrations. However, we found significant correlations between VDR expression levels and CYP24A1/ CYP27B1 expression levels in epileptic patients (r = 0.435 and P < 0.001; r = 0.26 and P = 0.02 respectively). There was also a significant correlation between the expression levels of CYP24A1 and CYP27B1 (r = 0.349 and P = 0.001). Our study shows a possible role for VDR in the pathogenesis of epilepsy.


Vitamin D VDR CYP27B1 CYP24A1 Epilepsy 


Funding Information

The study was funded by Vice-chancellor for Research and Technology, Hamadan University of Medical Sciences (No. 9412187285).


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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Neurophysiology Research CenterHamadan University of Medical SciencesHamadanIran
  2. 2.Department of NeurologyHamadan University of Medical SciencesHamadanIran
  3. 3.Department of Medical GeneticsShahid Beheshti University of Medical SciencesTehranIran
  4. 4.Clinical Research Development Center (CRDU)Qom University of Medical SciencesQomIran
  5. 5.Urogenital Stem Cell Research CenterShahid Beheshti University of Medical SciencesTehranIran

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