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Introduction Multiple sclerosis (MS) is a demyelination disease mediated by the immune system and is characterized by pathological mechanisms originating from the autoimmune destruction of myelin and neurons in the [...], Multiple sclerosis (MS) is a chronic inflammatory disease of the central nervous system (CNS) characterized by demyelination and axonal degeneration. Abnormal expression of microRNAs (miRNAs) plays an important role in MS pathology. In this cohort study, differential expression of the four miRNAs (hsa-miR-155-5p, hsa-miR-9-5p, hsa-miR-181a-5p, and hsa-miR-125b-5p) was investigated in 69 individuals, including 39 MS patients (relapsing-remitting MS (RRMS), n = 27; secondary progressive MS (SPMS), n = 12) and 30 healthy controls. In silico analyses revealed possible genes and pathways specific to miRNAs. Peripheral blood miRNA expressions were detected by quantitative real-time PCR (qPCR). hsa-miR-181a-5p was downregulated and associated with increased MS risk (P = 0.012). The other three miRNAs were upregulated and not associated with MS (P < 0.05). The area under the curve (AUC) is 0.779. In silico analyses showed that hsa-miR-181a-5p may participate in MS pathology by targeting MAP2K1, CREB1, ATXN1, and ATXN3 genes in inflammation and neurodegeneration pathways. The circulatory hsa-miR-181a-5p can regulate target genes, reversing the mechanisms involved in MS pathologies such as protein uptake and processing, cell proliferation and survival, inflammation, and neurodegeneration. Thus, this miRNA could be used as an epigenomic-guided diagnostic tool and for therapeutic purpose. Key words: multiple sclerosis, miRNA biomarkers, peripheral blood molecular diagnostics La sclérose en plaques (SP) est une maladie inflammatoire chronique du système nerveux central (SNC) caractérisée par une démyélinisation et une dégénérescence axonale. L&apos;expression anormale des microARN (miARN) joue un rôle important dans cette pathologie. Dans cette étude de cohorte, l&apos;expression différentielle de quatre miRNA (hsa-miR-155-5p, hsa-miR-9-5p, hsa-miR-181a-5p et hsa-miR-125b-5p) a été examinée chez 69 individus dont 39 patients SP (forme récurrente-rémittente, SPRR ; n =27 ; ou forme progressive secondaire, SPPS ; n =12) et 30 témoins en santé. Des analyses in silico ont révélé de possibles gènes ou sentiers spécifiques aux miARN. L&apos;expression des miARN dans le sang périphérique a été mesurée par PCR quantitatif en temps réel (qPCR). Le hsa-miR-181a-5p était moins fortement exprimé et il était associé à un risque accru de SP (P = 0,012). Les trois autres miARN étaient plus fortement exprimés chez les patients SP et n&apos;étaient pas associés à la SP (P < 0,05). L&apos;aire sous la courbe (AUC) était de 0,779. Des analyses in silico ont également montré que le hsa-miR-181a-5p pourrait participer à la pathologie de la SP en ciblant les gènes MAP2K1, CREB1, ATXN1 et ATXN3 des sentiers de l&apos;inflammation et de la neurodégénérescence. Les hsa-miR-181a-5p en circulation peuvent réguler les gènes ciblés, renversant les mécanismes impliqués dans les pathologies liées à la SP telles que l&apos;absorption et la transformation des protéines, la prolifération cellulaire et la survie, l&apos;inflammation et la neurodégénérescence. Ainsi, ce miARN pourrait servir d&apos;outil diagnostique épigénomique et thérapeutique. [Traduit par la Rédaction] Mots-clés : sclérose en plaques, miARN biomarqueurs, diagnostic moléculaire du sang périphérique

Ethnic-specific differences in minor allele frequency impact variant categorization for genetic screening of nonsyndromic hearing loss (NSHL) and other genetic disorders. We sought to evaluate all previously reported pathogenic NSHL variants in the context of a large number of controls from ethnically distinct populations sequenced with orthogonal massively parallel sequencing methods. We used HGMD, ClinVar, and dbSNP to generate a comprehensive list of reported pathogenic NSHL variants and re-evaluated these variants in the context of 8,595 individuals from 12 populations and 6 ethnically distinct major human evolutionary phylogenetic groups from three sources (Exome Variant Server, 1000 Genomes project, and a control set of individuals created for this study, the OtoDB). Of the 2,197 reported pathogenic deafness variants, 325 (14.8%) were present in at least one of the 8,595 controls, indicating a minor allele frequency (MAF) > 0.00006. MAFs ranged as high as 0.72, a level incompatible with pathogenicity for a fully penetrant disease like NSHL. Based on these data, we established MAF thresholds of 0.005 for autosomal-recessive variants (excluding specific variants in GJB2) and 0.0005 for autosomal-dominant variants. Using these thresholds, we recategorized 93 (4.2%) of reported pathogenic variants as benign. Our data show that evaluation of reported pathogenic deafness variants using variant MAFs from multiple distinct ethnicities and sequenced by orthogonal methods provides a powerful filter for determining pathogenicity. The proposed MAF thresholds will facilitate clinical interpretation of variants identified in genetic testing for NSHL. All data are publicly available to facilitate interpretation of genetic variants causing deafness.

The microRNA (miR)-29 family has been deregulated in several types of hematologic malignancies. However, role of this family and their target genes DNMT3A (DNA methyltransferase 3A) and TET2 (Ten-Eleven Translocation 2) remains unclear. Here, we have made an attempt to determine the relative expression levels of three miRNAs and target genes in patients with newly diagnosed Multiple myeloma (MM) using quantitative real-time PCR. Moreover, the expression levels of selected miRNAs and genes and their correlations with clinical parameters were compared and analyzed. The ROC curve was used to analyze their diagnostic efficacy for MM. The expression level of hsa-miR-29b-3p was significantly higher in patients with newly diagnosed MM compared with the control group. ROC analysis showed that hsa-miR-29b-3p demonstrated a moderate diagnostic power in MM. The relative expression level of hsa-miR-29b-3p in patients with high LDH levels was markedly reduced compared to that in patients with normal and low LDH levels. DNMT3A expression level was significantly increased in patients with high LDH levels and patients with lambda light chain. Our results indicate that hsa-miR-29b-3p may be used as a potential biomarker in the diagnosis of MM. [ABSTRACT FROM AUTHOR]

The aim of the study was to investigate the genetic effects of commonly used radiofrequency on the amniocytes of pregnant women by examining the changes in the expression of genes related to signal transduction and neurogenesis induced by electromagnetic fields of radiofrequencies of 1800 and 2100 MHz by real-time PCR. Upon exposure of the amniocytes to electromagnetic radiation of 2100 MHz at high field strength, the expression levels of genes with important functions in the Wnt signaling pathways as well as neurogenesis-related genes were increased. The findings suggest that radiofrequency at high field strengths can have genotoxic effects during pregnancy. [ABSTRACT FROM AUTHOR]

Copyright of Mersin Üniversitesi sağlık Bilimleri Dergisi is the property of Mersin University and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Cukurova Medical Journal / Çukurova Üniversitesi Tip Fakültesi Dergisi is the property of Cukurova University, Faculty of Medicine and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

OBJECTIVE: Hematopoiesis is regulated and maintained by the function of the particular transcription factors. CCAAT enhancer-binding protein alpha (CEBPA), an important transcription factor, has a part in the regulation of cell cycle, granulocytic differentiation, and more. The possible role of CEBPA in multiple myeloma (MM) development has not been clarified so far. Therefore, this study aimed to explore the relationship between the expression levels of the CEBPA gene in Turkish patients diagnosed with MM. METHODS: Using quantitative real-time PCR, the expression level of the CEBPA gene was examined in the bone marrow samples of 44 MM patients and 13 healthy controls. Statistical analyses were performed using SPSS, 13.3.1, and p<0.05 was evaluated as statistical significance level. RESULTS: Although there was a decrease CEBPA expression levels in the patient group compared to the control group, no statistically significant relationship was found in terms of CEBPA gene expression level and MM compared with the controls (p=0.436). CONCLUSION: Our findings suggest that the change in the expression level of CEBPA transcript itself has probably no effect in the pathogenesis of MM patients, although it is an important problem that needs further researches with large-scale samples. [ABSTRACT FROM AUTHOR]

Interaction between radiofrequency radiation (RFR) and miRNA which plays paramount role in growth, differentiation, proliferation, and cell death by suppressing one or more target genes, is still unknown. Therefore, the purpose of this study is to investigate the effects of long term 900 MHz mobile phone exposure on some of the miRNA in brain tissues (sham: 7; Exposure : 7)., which were kept in appropriate laboratory conditions for the second phase of our previous study [5]. It is remembered that rats in the exposure group were exposed to 900 MHz RFR for 3 h per day (7 days a week) for one year. For the aim of this study, expression of miRNAs such as rno-miR-22-3p, rnomiR-24-1-3p, rno-miR-132-3p, rno-miR-145-5p, rno-miR-181a-5p, rno-miR-186-5p, rno-miR-195-5p, rno-miR-219a-5p, rno-miR-221-3p and rno-miR-222-3p were investigated. Results indicated that long-term exposure of 900 MHz RF radiation increased only expression of rno-miR-145-5p (adj P * = 0.047) value where 1g average SAR value in brain was 0.198 W/kg. Our results indicated that chronic exposure of 900 MHz RFR has potential to increase expression of rno-miR-145-5p. Therefore, further studies are necessary to understand the relation between 900 MHz mobile phone exposure and diseases related to the expression of rno-miR-145-5p. [ABSTRACT FROM AUTHOR]

Copyright of Anatolian Journal of Psychiatry / Anadolu Psikiyatri Dergisi is the property of Anatolian Journal of Psychiatry and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)