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OBJECTIVES: The aim of this study was to evaluate the possible association of miR-206 serum as an indicator of diagnosis in patients with coronary artery disease. METHODS: In this study, 100 patients with coronary artery disease who had angiography and vascular transplantation were selected and evaluated. Extraction of microRNAs from peripheral blood plasma was performed using an exclusive microRNA extraction kit. Then the cDNA synthesis of the target microRNA was performed and its concentration and purity were evaluated. The expression level of miR-206 was performed using the real-time PCR technique and the SYBER Green method, using U6 snRNA as an internal control. In order to analyze the amount of microRNA expression and the signifi cance of the patient sample, the t-test was used to compare the control sample. Also, Pearson correlation coeffi cient test was used to determine the relationship between the expression level of microRNAs. RESULTS: The results showed a positive correlation between miR-206 expression and coronary artery disease. While the average expression of 1 ± 0.18 in the control sample was increased to 8.76 according to the severity of involvement in the patient, the relative expression of miR-206 in the CAD + group was signifi cantly increased compared to the control (p < 0. 03). CONCLUSIONS: It appears that miR-206 can be considered as an indicator of coronary endothelial cell function. As such, it can be used as a biomarker for prognosis and in controlling the treatment for coronary artery disease (Tab. 2, Fig. 3, Ref. 20). Text in PDF www.elis.sk.
Background: Hearing loss (HL) is the most prevalent sensory disease in humans. HL is among the most clinically and genetically heterogeneous disorders. Pathogenic variants in GJB2 are the main cause of HL in many populations. Therefore, GJB2 analysis should be considered as the first step for HL. Objectives: This study aimed to find causative variants in the GJB2 gene in 75 unrelated Iranian patients who suffered from Autosomal recessive non-syndromic hearing loss (ARNSHL). Methods: Peripheral blood samples were used for genomic DNA extraction. PCR-direct sequencing was performed to detect GJB2 mutations. Results: In this study, thirty-four chromosomes (21.33%) carried GJB2 mutations. In total, 10 variants in 19 cases were detected. Seven cases were homozygous for c.35delG; (p.Gly12Valfs*2), two were homozygous for c.71G>A; (p.Trp24*), two were homozygous for c.358-360delGAG (p.Glu120del), and two were homozygous for c.-23+1G>A mutations. One patient was a compound heterozygote for c.35delG and c.-23+1G>A mutation, and another patient with compound heterozygosity for c.290dupA and c.235delC mutations were determined. Four patients carried a mono-allelic variant in the GJB2 including c.126G>T; (p.Glu42Asp), c.23C>T; (p.Thr8Met), c.445G>A; (p.Ala149Thr) and c.269T>C; (p.Leu90Pro). Accordingly, c.35delG mutation was the most common variant in this study. Conclusions: Finding common variants of HL mutations in different populations can elevate the diagnostic value of molecular testing in the screening of affected individuals, and can improve counselling to minimize the risk of having affected offspring for at-risk couples. Besides, early diagnosis can easily lead to speech development and prevents further problems.
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