Identification of MiR-125a as a Novel Plasma Diagnostic Biomarker for Chronic Lymphoblastic Leukemia

Background: Chronic lymphocytic leukemia (CLL) is a type of malignancy in which the bone marrow makes too many lymphocytes. MicroRNAs (miRNAs) are endogenous short (~22-nucleotides) non-protein-coding regulatory RNA molecules with key roles in cellular and molecular processes linked to different cancers including CLL. Recently, some investigations have demonstrated that miR-125a downregulation is correlated with the expression of P53, NRG1 and ERBB2. Methods: In this study, samples including 38 patients with CLL and 25 healthy individuals were collected. We used quantitative real-time PCR (qRT-PCR) to assess the expression of miR-125a in plasma of the CLL patients in comparison with healthy controls. Moreover, we used the Kyoto Encyclopedia of Genes and Genomes (KEGG) signaling pathway analysis on miR-125a targets in the DAVID database in order to investigate the potential role of miR-125a in cancer pathways. MiR-125a exerted a variety of roles in the cancer pathway via downregulating target genes including ERBB2. Results: The expression of miR-125a dramatically decreased (~2-fold) in the patients with CLL compared with the healthy controls (p = 0.03). Furthermore, overexpression of miR-125a was associated with different CLL staging and B symptoms (all at p < 0.05). The KEGG pathway enrichment analysis demonstrated the eight statistically related KEGG signaling pathways with miR-125a targetome. Conclusions: The results suggested that the miR-125a expression level could be a novel potential biomarker for CLL prognosis. © 2019 Verlag Klinisches Labor GmbH. All rights reserved

Over expression of circulating miR-155 predicts prognosis in diffuse large B-cell lymphoma

Introduction: The expression patterns of microRNAs in plasma are involved in potential biomarkers for several diseases. The goal of this study was to explore the expression level of miR-155 in diffuse large B-cell lymphoma (DLBCL) and its clinical significance. Materials and methods: We used qRT-PCR to assess the peripheral blood plasma of 40 DLBCL patients for the expression of miRNA-155. The median of miR-155 expression divided the DLBCL patients into miR-155 low-expression (miR-155low) and miR-155 high-expression (miR-155high) groups. Results and discussion: We found that plasma miR-155 expression was significantly up-regulated in patients with DLBCL (median expression value: 4.29, range: 1.52�27.86) compared to healthy individuals (median expression value: 2.14, range: 0.29�10.56, P &lt; 0.002). Moreover, DLBCL cases with an elevated level of miR-155 had shorter overall survival (median 9 vs. 13 months, P = 0.043) than those with a lower miR-155 expression. © 2018 Elsevier Lt

Over expression of circulating miR-155 predicts prognosis in diffuse large B-cell lymphoma

Introduction: The expression patterns of microRNAs in plasma are involved in potential biomarkers for several diseases. The goal of this study was to explore the expression level of miR-155 in diffuse large B-cell lymphoma (DLBCL) and its clinical significance. Materials and methods: We used qRT-PCR to assess the peripheral blood plasma of 40 DLBCL patients for the expression of miRNA-155. The median of miR-155 expression divided the DLBCL patients into miR-155 low-expression (miR-155low) and miR-155 high-expression (miR-155high) groups. Results and discussion: We found that plasma miR-155 expression was significantly up-regulated in patients with DLBCL (median expression value: 4.29, range: 1.52�27.86) compared to healthy individuals (median expression value: 2.14, range: 0.29�10.56, P &lt; 0.002). Moreover, DLBCL cases with an elevated level of miR-155 had shorter overall survival (median 9 vs. 13 months, P = 0.043) than those with a lower miR-155 expression. © 2018 Elsevier Lt

"Frequency of A Very Rare 35delG Mutation in Two Ethnic Groups of Iranian Populations "

The 35delG mutation in the Connexin 26 gene (Cx26), at the DNFB1 locus is the most common mutation in the patients with autosomal recessive non-syndromic hearing loss (ARNSHL). We have studied a total of 224 deaf cases from 189 families in two populations of Iran (Sistan va Bluchestan and Hormozgan provinces) by prescreening nested PCR, polyacrylamide gel electrophoresis and consequent direct sequencing method for all cases. The aim of the present work was to find prevalence of GJB2 mutations in the populations studied. Four different GJB2 mutations including 35delG, W24X, R127H and (V27I + E114 G) were identified in 11 of 189 families (5.8%). Two polymorphisms (V27I and V153I) also were detected in 14 families. A polymorphism S86T was determined in all cases. Homozygote 35delG mutation was found only in 1 of 189 families (0.5%).The rate of Cx26 mutations found in this study was lower than other Iranian populations. So the cause of deafness in the populations studied remains to be detected in other loci or genes

"Two Novel Mutations and Predominant 35delG Mutation in the Connexin 26 Gene (GJB2) in Iranian Populations"

Mutations in the GJB2 gene encoding Connexin 26 (Cx26) protein are a major cause for autosomal recessive non syndromic and sporadic deafness in many populations. In this study we have investigated the prevalence of the GJB2 gene mutations using nested PCR pre screening strategy and direct sequencing method. Two hundred and sixty autosomal recessive non syndromic and sporadic deaf subjects from 199 families in two provinces of Iran (Gilan and Khorasan) were studied. Altogether 14 different genetic variants were identified from which 2 were novel variant (327delG+G109G and 431insC). Eight GJB2 mutations including 35delG, 235delC, W77X, R127H, M34T, V27I+E114G, L90P and delE120 were also found in 54 of 199 families (27%). Four polymorphysms V27I, S86T, V153I and G160S also were detected. Thirty two of 199 families were observed to have GJB2 mutations in both alleles (16%). The most common mutation was 35delG so that 43 out of 55 GJB2 mutations (78.2%) contained 35delG mutation

Autosomal Recessive and Sporadic Non Syndromic Hearing Loss and the Incidence of Cx26 Mutations in a Province of Iran

Despite the enormous heterogeneity of genetic hearing loss, mutations in the GJB2 (connexin 26) gene located on “DFNB1” locus (13q12) account for up to 50% of cases of autosomal recessive non-syndromic hearing loss (ARNSHL) in some populations. This study describes the analysis of 100 autosomal recessive and sporadic nonsyndromic hearing loss individuals from 79 families each having at least one deaf child in Chehar Mahal va Bakhtiari province in west of Iran. We have investigated the prevalence of the connexin 26 gene mutations using nested PCR strategy to screen the predominant 35delG mutation and subsequent direct sequencing to detect other Cx26 mutations. Seven different genetic variants were detected from which one novel variant was including 363delC. The 35delG was the most common mutation found in 5 of 79 families (6.3%). Cx26 related deafness mutations (35delG, [V27I; E114G]) and R127H) were found in 12 of 158 chromosomes studied (7.8%). We conclude that the association of Cx26 mutations with deafness in Chehar Mahal va Bakhtiari province is low and looks like most other populations of Iran