The Effect of Metformin on Expression of Long Non-coding RNA H19 in Endometrial Cancer.

Background: Endometrial cancer is the fourth most widespread cancer among females, with a growing prevalence in recent years. Management by combined therapies along with surgery, radiotherapy, and chemotherapy have improved patients' prognoses. Besides, the development of new therapies helps preserve fertility and prognosis in aggressive tumors. The purpose of this research was to identify the efficacy of metformin on the H19 long non-coding RNA expression in endometrial cancer to provide further insight into the pathogenesis and treatment of the disease. Methods: A total of 23 patients with endometrial cancer, diagnosed by biopsy or diagnostic curettage, were recruited and divided into three groups, before and after metformin treatment and placebo. Real-time PCR was used to evaluate the H19 expression in cancer tissue in all patients. Results: : It has been observed that in endometrial tissue of the "after-metformin" treatment group, the H19 expression level was significantly reduced, compared with the "before-metformin" treatment group, but not in comparison with the placebo. These findings indicate that metformin reduced the H19 expression in endometrial cancer. Conclusion: Anti-diabetic drugs, such as metformin, may be beneficial by reducing the H19 expression in endometrial cancer due to the H19 relation to cancer progression.

Autoimmune Polyglandular Syndrome Type 1: a case report.

BACKGROUND: Mutations of the autoimmune regulator gene (AIRE), located on chromosome 21q22.3, are recognized as the cause of a rare monogenic organ-specific autoimmune disorder called autoimmune polyglandular syndrome type 1 (APS-1). Three major components of this syndrome include chronic mucocutaneous candidiasis (CMC), hypoparathyroidism, and adrenocortical failure. CASE PRESENTATION: We report a 19-year-old girl, who was born in an Iranian Muslim family with a clinical diagnosis of APS-1. To identify the causative mutation, a direct sequencing of the entire AIRE gene sequence was performed by Sanger sequencing method. Three distinct variants were discovered, including c.1095 + 2 T > A, c.1197 T > C (rs1800521) and c.1578 T > C (rs1133779), in intron 9, exons 10 and 14 of the AIRE gene, respectively. CONCLUSIONS: To the best of our knowledge, this is the first report of an Iranian Muslim APS-1 patient with combination of these variations. In addition, the effect of c.1095 + 2 T > A mutation on AIRE mRNA expression was reported for the first time. This study expands the diversity of variants that could cause APS-1. More genetic studies are required to determine the exact frequency of these variants and their diagnostic significance.

Association between Macrophage Migration Inhibitory Factor Gene Variation and Response to Glucocorticoid Treatment in Sudden Sensorineural Hearing Loss.

Several lines of evidence suggest the role of the immune system in the pathogenesis of sudden sensorineural hearing loss (SSNHL). Macrophage migration inhibitory factor (MIF) mediates its role in various immune and inflammatory conditions by the regulation of immune reactions. Several studies have confirmed an association between MIF gene polymorphisms and susceptibility to various inflammatory and autoimmune disorders. The aim of this study was to explore the association between the MIF (-173 G/C) polymorphism (rs755622) and SSNHL in an Iranian population. In this case-control association study, SSNHL cases (n = 77) were included. Normal healthy subjects (n = 100) were also recruited from the same region. Genotyping for MIF (-173 G/C) polymorphism was carried out using the polymerase chain reaction-restriction fragment length polymorphism technique. The frequency of the MIF -173 C allele carriers (GC + CC genotype) was significantly elevated in SSNHL patients who responded to glucocorticoid treatment compared with the patients with no response to treatment. These results suggest that the MIF gene polymorphism is associated with a response to glucocorticoid treatment in patients with SSNHL.

Association between MTHFR variant and diabetic neuropathy.

BACKGROUND: Methylene-tetrahydrofolate reductase (MTHFR) gene variant may play an important role in the pathophysiology of diabetes and its complications due to its influence on plasma homocysteine levels and also its effect on scavenging peroxynitrite radicals. Diabetic peripheral neuropathy (DPN) is one of the most common diabetic chronic complications. The aim of this study was to investigate the relationship between diabetic neuropathy and MTHFR gene C677T and 1298A /C polymorphisms. METHOD: Patients with type 2 diabetes N=248 were enrolled in the study, consisting of patients with neuropathy (N=141) and patients without neuropathy (N=107). MTHFR C677T polymorphism was analyzed using polymerase chain reaction followed by restriction fragment length polymorphism (PCR-RFLP) of genomic DNA for genotyping of samples. 1298A/C polymorphism was evaluated using ARMS-PCR. RESULT: There was a significant difference in MTHFR polymorphism between the groups with and without neuropathy. CONCLUSION: Our results suggest that MTHFR 677 variant confer risk for diabetic neuropathy among Iranian patients with type 2 diabetes.

eNOS gene Glu298Asp variant confer risk in sudden sensorineural hearing loss.

BACKGROUND: Sudden sensorineural hearing loss (SSNHL) causes the loss of hearing of 30 dB or greater on at least three contiguous frequencies. It is known to be a multifactorial disease which the exact cause is unknown, rendering it as an idiopathic disorder of patients. AIMS/OBJECTIVES: This study aims to shed further light on pathogenesis of this disease by studying the association between eNOS gene Glu298Asp polymorphism and VDR gene FokI polymorphism with SSNHL in Iranian population. MATERIAL AND METHODS: This study involves a total of 77 cases and 100 controls, with patients inflicted with SSNHL categorized in case group and healthy subjects as control group. Genotyping of the VDR and eNOS genes was conducted by the polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) method. RESULTS: Our results showed a statistically significant association between genotype frequencies of eNOS gene Glu298Asp polymorphism in case group compared to healthy individuals in the control group (p = .01). Also, TT genotype was significantly the most prevalent genotype in case group in comparison to control group (TT vs GT + GG, OR = 3.5; 95% CI = 1.18-11.79). On the other hand, analysis of VDR gene FokI polymorphism frequencies showed no statistically significant association with SSNHL. CONCLUSIONS AND SIGNIFICANCE: Our findings showed a significant association between the eNOS gene Glu298Asp polymorphism and SSNHL in the Iranian population; and "TT" genotype might be considered as a risk factor for SSNHL.