The rs6323 and uVNTR Polymorphisms in the MAOA Gene are Associated with Attention Deficit Hyperactivity Disorder in Iranian Azeri Children

Background: ADHD is the most prevalent psychiatric health issue in youth, which may also affect adults. Environmental and genetic factors both contribute significantly to the development and progression of this condition. Monoamine oxidases, which catalyze the metabolism of dopaminergic neurotransmitters, are involved in the pathogenesis of ADHD. The purpose of this study was to determine the connection between polymorphic variations rs6323 and uVNTR in the (Un translate variable nucleotide tandem repeat) MAO-A gene and the risk for ADHD in Iranian-Azeri children.Methods: Clinical evaluation was used to recruit 137 ADHD patients (female 22, male 115) and 100 controls (female 48, male 52) from the East Azerbaijan region in northern Iran. Genomic DNA was taken from their peripheral blood samples and genotyping was performed using PCR-based amplification of target sites. SPSS (Version 16) and the javastat online statistics program (http://statpages.org/ctab2x2.html) were used for statistical analysis.Results: The rs6323TT genotype was shown to be a significant risk factor for ADHD (OR 3.619, 95 percent CI 0.878-17.213, p = 0.044). In comparison, no significant differences in allele frequencies were observed between ADHD patients and the control group (p > 0.05). The 5R allele of uVNTR was shown to have a substantial protective impact against the development of ADHD (OR0.349, 95 percent confidence interval 0.151-0.797, p = 0.006).Conclusion: Our findings indicate that MAOA gene polymorphisms may play a role in the start and development of ADHD in Iranian-Azeri youngsters. However, more research with larger sample sizes is necessary to corroborate these results

Detection of mutations within exons 5 to 8 of the TP53 gene among Azeri patients with sporadic thyroid carcinoma

Background: Thyroid cancer is the most common malignant endocrine tumor, and the incidence was rising worldwide over the last three decades. TP53 is one of the most important tumor suppressor genes in the genome, and its mutations are found in approximately 50 of human cancers. It plays pivotal roles in the regulation of cell cycle arrest and apoptosis. The aim of this study was to analyze TP53 gene mutations among thyroid cancer patients in East- Azerbaijan. Material and Methods: 40 tumor samples have been collected from thyroid cancer patients from Tabriz hospitals between 2007-2009. DNA was extracted by Proteinase K � Iso propanol method and then the mutations in p53 gene from exon5 to exon8, were detected by Polymarase Chain Reactions (PCR) and direct sequencing techniques.Results: Alterations in the p53 gene were detected in 12.5 of the patients, including single nucleotide polymorphisms and mutations, including codon216 (GTG>GTA), codon215 (AGT>ATT) and codon273 (CGT>CAT) mutations (each mutation in one of the cases) and two linked polymorphisms 14181C>T and 14201T>G (in two cases).Conclusion: This result helps us to clarify p53 mutation status among Azerbaijani thyroid cancer patients

Evaluating long non-coding RNA PRNCR1 in breast cancer

Background & Objective: Breast cancer is one of the most common malignancies leading to death in women especially in industrial countries. Recent studies revealed that noncoding RNAs play important roles in various cellular activities such as tumor initiation, progression, and resistance to therapy. PRNCR1 is a long noncoding RNA that upregulates in some cancers and through androgen receptor signaling causes carcinogenesis. The aim of this study was to evaluate the expression pattern of PRNCR1 in breast cancer patients. Material & methods: In the present study, 30 breast tumor specimens and paired adjacent nontumoral tissues were collected from breast cancer women from East Azarbaijan province during the period of 2014-2015 and the expression level of PRNCR1 was evaluated using qRT-PCR. Also, the statistical analysis (t-test) was performed to examine the association between PRNCR1 and clinic-pathologic characteristics of tumor samples. Results: The data revealed that PRNCR1 significantly upregulates in breast tumor tissues compared to the paired adjacent normal tissues. Moreover, overexpression of PRNCR1 in breast tumor tissues was significantly related to tumor size and lymph node metastasis (P<0.05). Conclusion: The results revealed that PRNCR1 significantly dysregulates in breast cancer. Considering its effect on downstream pathways of androgen receptor, suggesting that it might be used as a therapeutic agent, although further studies are required

The effect of glatiramer acetate, IFNβ-1a, fingolimod, and dimethyl fumarate on the expression of T-bet, IFN-γ, and MEG3 in PBMC of RRMS patients

Abstract Objective Multiple sclerosis (MS) is a progressing neurodegenerative disease marked by chronic central nervous system inflammation and degeneration.This study investigates gene expression profiles of T-box transcription factor TBX21 (T-bet), interferon-gamma (IFN-γ), and long non-coding RNA MEG3 in peripheral blood mononuclear cells (PBMCs) from treatment-naïve Relapsing-Remitting Multiple Sclerosis patients (RRMS), healthy controls, and RRMS patients on different Disease Modifying Therapies (DMTs). The aim is to understand the role of T-bet, IFN-γ, and MEG3 in MS pathogenesis and their potential as diagnostic and therapeutic targets. Results Elevated T-bet expression is observed in treatment-naïve RRMS patients compared to healthy individuals. RRMS patients treated with Interferon beta-1alpha (IFNβ-1a) and fingolimod exhibit downregulated T-bet and MEG3 expression levels, respectively, with more pronounced effects in females. Healthy individuals show a moderate positive correlation between T-bet and MEG3 and between IFN-γ and T-bet. In RRMS patients treated with Glatiramer Acetate (GA), a strong positive correlation is observed between MEG3 and IFN-γ. Remarkably, RRMS patients treated with Dimethyl Fumarate (DMF) exhibit a significant positive correlation between T-bet and MEG3. These findings underscore the diagnostic potential of T-bet in RRMS, warranting further exploration of MEG3, T-bet, and IFN-γ interplay in RRMS patients

Evaluation of the expression of the long non-coding RNAs, LOWEG and MINCR, and their clinical significance in human gastric cancer

Abstract Background Gastric cancer (GC) is currently the fifth most common malignancy. Accumulating evidence has recently revealed that maladjustments of diverse long non-coding RNAs may play key roles in multiple genetic and epigenetic phenomena in GC. Long non-coding RNAs (lncRNAs), which are transcriptional products with more than 200 nucleotides, are a subset of non-coding RNAs. LncRNA LOWEG and lncRNA MINCR, as novel lncRNAs, may have roles in GC progression. Objective This study aimed to examine the clinical and diagnostic significance of lncRNA LOWEG and lncRNA MINCR in GC. Methods The qRT-PCR technique measured lncRNA LOWEG and lncRNA MINCR expression in GC tissues and matched adjacent marginal tissues. The association between clinicopathological parameters and the expression level of lncRNAs was evaluated. Furthermore, The ROC curve was plotted to assess the diagnostic power of lncRNA LOWEG and lncRNA MINCR as candidate biomarkers in gastric cancer patients. Results We found that lncRNA LOWEG expression was downregulated in cancerous tissues compared to the adjacent marginal tissues (P-value < 0.0001). LncRNA MINCR expression was upregulated in cancerous tissues compared to adjacent marginal tissues (P-value < 0.0001). Downregulation of lncRNA LOWER and upregulation of lncRNA MINCR did not significantly correlate with clinicopathological parameters. ROC curve analysis showed that lncRNA LOWEG and lncRNA MINCR could be proposed as reliable diagnostic biomarkers in GC. Conclusion The expression of the lncRNA LOWEG was reduced in tumoral tissues compared to the adjacent marginal tissues, and the expression of lncRNA MINCR increased in tumoral tissues. So, as a result, lncRNAs LOWEG and MINCR could be considered diagnostic biomarkers for GC