Nasrin Yazdanpanahi; Masoud Etemadifar; Elaheh Shams
Volume 18, Issue 2 , May 2019, , Pages 70-75
Abstract
Background: Deoxyribonucleic acid (DNA) methyltransferase 3 beta (DNMT3B) gene encodes an MT enzyme involving in de novo methylation of DNA. The present investigation aimed to explore the association of DNMT3B-579G>T (rs1569686) polymorphism with multiple sclerosis (MS).
Methods: 130 Iranian patients ...
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Background: Deoxyribonucleic acid (DNA) methyltransferase 3 beta (DNMT3B) gene encodes an MT enzyme involving in de novo methylation of DNA. The present investigation aimed to explore the association of DNMT3B-579G>T (rs1569686) polymorphism with multiple sclerosis (MS).
Methods: 130 Iranian patients with MS and 130 controls were genotyped for the DNMT3B-579G>T using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method.
Results: There was no statistically significant association between DNMT3B-579G>T and susceptibility to MS. The alleles and genotypes of DNMT3B-579G>T did not have different risks of MS development under various models [T vs. G (P = 0.86); GTvs. GG (P = 0.48); TT vs. GG (P > 0.99); GT+TT vs. GG (P = 0.60), and TT vs. GG+GT (P = 0.87)]. Also, there was no statistically significant association between genotypes and clinical and demographic characteristics of patients (P > 0.05).
Conclusion: The current findings suggest that DNMT3B-579G>T is probably not a crucial potential risk marker in molecular diagnostics of MS among Iranian. However, to the best of our knowledge, this is the first genetic association study about the DNMT3B polymorphisms and MS. Therefore, further surveys should be included to estimate the exact relevance of DNMT3B gene to the development of autoimmune disorders like MS.
Behnaz Ansari; Masoud Etemadifar; Mohammadreza Najafi; Maryam Nasri; Rokhsareh Meamar
Volume 18, Issue 1 , January 2019, , Pages 13-18
Abstract
Background: This study was designed to investigate the difference in the prevalence of neuronal autoantibodies in patients diagnosed with established temporal lobe epilepsy (TLE) of unknown cause with mesial temporal sclerosis (MTS) and patients with TLE without MTS.
Methods: In an observational cohort ...
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Background: This study was designed to investigate the difference in the prevalence of neuronal autoantibodies in patients diagnosed with established temporal lobe epilepsy (TLE) of unknown cause with mesial temporal sclerosis (MTS) and patients with TLE without MTS.
Methods: In an observational cohort study design, we included thirty-three consecutive adult patients and divided them into two groups with and without MTS. We evaluated anti-neuronal and nuclear antibodies with immunofluorescence (IF) and enzyme-linked immunosorbent assay (ELISA), respectively.
Results: From the thirty-three consecutive patients with epilepsy 17 (51.1%) had MTS of which 12 had unilateral and 5 had bilateral MTS. No significant difference was detected between seropositive and seronegative patients in MTS versus non-MTS groups. The studied autoantibodies were present in 16 patients, including gamma-aminobutyric acid receptor (GABA-R) antibodies being the most common in 11 (33.3%), followed by N-methyl-D-aspartate receptor (NMDA-R) in 2 (6.1%), glutamic acid decarboxylase receptor (GAD-R) in 1 (3.0%), anti-phospholipid (APL) antibody in 1 (3.0%), CV2 in 1 (3.0%), Tr in 1 (3.0%), recoverin in 1 (3.0%), and double-stranded deoxyribonucleic acid (dsDNA) antibody in 1 (3.0%) of our patients with focal epilepsy. In both MTS and non-MTS groups, eight patients were positive for antibodies; four patients were positive for GABA in the MTS group and seven for GABA in the non-MTS group.
Conclusion: Neuronal antibodies were presented in half of patients with focal epilepsy, GABA antibody being the leading one. No specific magnetic resonance imaging (MRI) findings were found in the seropositive group. Our results suggest that screening for relevant antibodies may enable us to offer a possible treatment to this group of patients.
