Investigation of mutation in cystatin‌ B gene in patients affected by idiopathic generalized epilepsy in Chaharmahal and Bakhtiari province

Background and aims: Cystatin B gene encodes a protein that inhibits proteolytic activity of cathepsin enzymes. Mutation in this gene has been stated as one of the causes of idiopathic generalized epilepsy. This study aimed at screening the cstB gene mutations in 35 patients affected by idiopathic generalized epilepsy in the Chaharmahal and Bakhtiari province. Methods: In this descriptive-lab study, the researchers examined mutations in exons 1 to 3 and uncovered the cstB gene promoter region in 35 patients with Idiopathic Generalized Epilepsy.Using standard phenol-chloroform procedure. The researchers extracted DNA and then they utilized PCR-SSCP analysis for screening mutations in this gene. Finally suspected cases were sequenced. Results: In one of the samples, point mutation c.48C> T was found which was unknown. Investigating the bioinformatic examinations on this sample, it can be concluded that this shift has been occurred in the cstB gene intronic region. Conclusion: The results obtained from the samples of this study reveales that there is a slight relationship between idiopathic generalized epilepsy and the cstB gene mutations

Role of increasing serum tumor necrosis factor on hyperalgesia and edema variation during different stages of adjuvant- induced arthritis in male rats

Introduction: Tumor necrosis factor α (TNF-α) is a potent cytokine that exerts pleiotropic functions in inflammatory symptoms. With regarding to the important role of TNFα in hyperalgesia and edema induction via intra-cellular signaling pathways, we aimed to investigate the role of increasing serum TNF-α on hyperalgesia and edema and spinal mu opioid receptor (mOR) expression variation during different stages of Complete Freound Adjuvant- induced arthritis in male rats.Materials and Methods: Mono-arthritis was induced by CFA and then inflammatory symptoms (hyperalgesia and edema) were assessed on day 0, 3,7th, 14 and 21 following CFAinduction. In addition, anti-TNF-α was daily administered for 21 days for all different experimental groups. Spinal mOR expression were detected by western blotting. Results: Our results showed that anti-TNFα administration in AA group resulted in decrease of paw volume and hyperalgesia until day 14, whereas, those symptoms were increased on day 21 following CFAinduction. Our study stated that anti- TNFα antibody administration causes a significant decreasing in spinal mOR protein expression on days 14 and 21 of the study.Conclusion: This study confirmed the time-dependent and bi-directional effects of serum TNF-α levsel on CFA-induced hyperalgesia, which it can say, a portion of these effects might be mediated via spinal mOR expression variation