SNPs and Type 2 Diabetes

Type 2 diabetes is considered a multifactorial trait in which multiple genetic and environmental factors interact in complex, non-linear ways to produce the common phenotype of hyperglycemia. Until recently, research efforts to identify the genetic variants that contribute to individual differences in predisposition to T2D were met with slow progress and limited success. Over the past three years, the advent of genome-wide association (GWA) scan has ushered in a new era regarding the capacity of identifying common genetic variants that contribute to predisposition to complex multifactorial phenotypes such as type 2 diabetes. The identification of the variants, genes and pathways implicated in T2D pathogenesis might facilitate its diagnosis and prevention and offer a route to new therapies. The aim of this paper is to review the literature regarding SNPs that have been associated with T2D predisposition

Detection of IgG autoantibodies against desmocollin–3 in Greek patients with pemphigus

Pemphigus is an autoimmune bullous disorder caused by autoantibodies against desmosomal cadherins. The most common clinical forms are pemphigus vulgaris (PV) and pemphigus foliaceus (PF). Among the numerous proteins that are considered responsible for the cohesion of keratinocytes in epidermis, desmocollin-3 (Dsc-3) has been initially reported to participate in epidermal blistering in mice. There have been reports in which autoantibodies against Dsc-3 have been detected. In PV, a limited number of studies found no presence of IgG or IgA autoantibodies against Dsc-3. In this study we examined sera from Greek patients with PV and PF for the presence of IgG autoantibodies against Dsc-3. Immunoblotting for the detection of autoantibodies against Dsc-3 was performed in sera from all cases. Dsc-3 autoantibodies were not detected in either group (PV and PF). Our results confirm the hypothesis that the pathogenic role of Dsc-3 in epidermal blistering in PV and PF remains controversial. </p

MMP9 but Not EGFR, MET, ERCC1, P16, and P-53 Is Associated with Response to Concomitant Radiotherapy, Cetuximab, and Weekly Cisplatin in Patients with Locally Advanced Head and Neck Cancer

Concomitant administration of radiotherapy with cisplatin or radiotherapy with cetuximab appear to be the treatment of choice for patients with locally advanced head and neck cancer. In the present retrospective analysis, we investigated the predictive role of several biomarkers in an unselected cohort of patients treated with concomitant radiotherapy, weekly cisplatin, and cetuximab (CCRT). We identified 37 patients treated with this approach, of which 13 (35%) achieved a complete response and 10 (27%) achieved a partial response. Severe side effects were mainly leucopenia, dysphagia, rash, and anemia. Tumor EGFR, MET, ERCC1, and p-53 protein and/or gene expression were not associated with treatment response. In contrast, high MMP9 mRNA expression was found to be significantly associated with objective response. In conclusion, CCRT is feasible and active. MMP9 was the only biomarker tested that appears to be of predictive value in cetuximab treated patients. However, this is a hypothesis generating study and the results should not be viewed as definitive evidence until they are validated in a larger cohort

SOME STUDIES ON THE ANTIVIRAL AND ANTICELLULAR PROPERTIES OF INTERFEERONS.

WITH THE PRESEND WORK WE INVESHGATEDΜΕ ΤΗΝ ΕΡΓΑΣΙΑ ΜΑΣ ΑΥΤΗ ΜΕΛΕΤΗΣΑΜΕ ΜΕΡΙΚΕΣ ΙΔΙΟΤΗΤΕΣ ΤΗΣ ΙΝΤΕΡΦΕΡΟΝΗΣ (IFN). ΔΕΙΞΑΜΕ ΟΤΙ ΕΑΝ Η IFN ΕΠΑΓΕΙ ΤΗΝ 2',5'ΟΛΙΓΟ Α ΣΥΝΘΕΤΑΣΗ ΟΙ ΕΠΑΓΩΓΕΣ ΤΗΣ IFN ΠΟΥ ΧΡΗΣΙΜΟΠΟΙΗΘΗΚΑΝ (POLY I-POLY C ΚΑΙ SV40) ΔΕΝ ΕΠΗΓΑΓΑΝ ΤΟ ΕΝΖΥΜΟ ΑΥΤΟ. Η ΜΕΤΑΓΡΑΦΗ ΤΗΣ 2',5'ΟΛΙΓΟ Α ΣΥΝΘΕΤΑΣΗΣ ΗΤΑΝ ΜΕΓΙΣΤΗ ΜΕΤΑ ΑΠΟ 12 ΩΡΩΝ ΚΑΤΕΡΓΑΣΙΑ ΤΩΝ ΚΥΤΤΑΡΩΝ ΜΕ IFN. Η ΑΝΑΝΕΩΣΗ ΤΗΣ IFN ΣΤΟ ΘΡΕΠΤΙΚΟ ΥΓΡΟ ΤΩΝ ΚΥΤΑΡΟΚΑΛΛΙΕΡΓΕΙΩΝΠΑΙΖΕΙ ΣΠΟΥΔΑΙΟ ΡΟΛΟ ΣΤΗΝ ΔΙΑΤΗΡΗΣΗ ΜΕΓΙΣΤΩΝ ΕΠΙΠΕΔΩΝ ΤΗΣ 2',5' ΟΛΙΓΟ Α ΣΥΝΘΕΤΑΣΗΣ. ΟΙ IFN ΕΙΝΑΙ ΓΝΩΣΤΟ ΟΤΙ ΕΠΗΡΕΑΖΟΥΝ ΤΗΝ ΠΡΩΤΕΙΝΙΚΗ ΣΥΝΘΕΣΗ ΜΕ ΔΙΑΦΟΡΟΥΣ ΤΡΟΠΟΥΣ. ΜΕ ΤΗΝ ΕΡΓΑΣΙΑ ΜΑΣ ΑΥΤΗ ΕΞΕΤΑΣΑΜΕ ΚΑΤΑ ΠΟΣΟ Η IFN ΕΠΗΡΕΑΖΕΙ ΤΗΝ ΙΣΤΟΝΗ ΚΑΙ ΤΗΝ ΑΚΤΙΝΗ. ΤΑ ΑΠΟΤΕΛΕΣΜΑΤΑ ΔΕΙΧΝΟΥΝ ΟΤΙ Η IFN ΔΕΝ ΕΠΗΡΕΑΖΕΙ ΤΑ ΕΠΙΠΕΔΑ ΜΕΤΑΓΡΑΦΗΣ ΤΩΝ ΔΥΟ ΑΥΤΩΝ ΠΡΩΤΕΙΝΩΝ ΕΝΩ ΑΝΤΙΘΕΤΑ ΕΠΑΓΕΙ ΤΗΝ ΜΕΤΑΓΡΑΦΕΙ ΤΗΣ 2',5' ΟΛΙΓΟ Α ΣΥΝΘΕΤΑΣΗ. Η IFN ΕΠΙΣΗΣ ΕΛΑΤΩΝΕΙ ΤΗΝ ΜΕΤΑΓΡΑΦΗ ΤΟΥ ΜΕΓΑΛΟΥ SV40 T ΑΝΤΙΓΟΝΟΥ. ΑΝ Η ΕΠΕΞΑΡΓΑΣΙΑ ΤΩΝ ΚΥΤΤΑΡΩΝ ΜΕ ΙΝΤΕΡΦΕΡΟΝΗ ΓΙΝΕΙ ΠΡΙΝ ΑΠΟ ΤΗ ΜΟΛΥΝΣΗ ΤΟΥΣ ΜΕ ΤΟΝ ΙΟ SV40, Η ΑΝΑΣΤΟΛΗ ΤΗΣ ΣΥΝΘΕΣΗΣ ΤΟΥ Τ-ΑΝΤΙΓΟΝΟΥ ΑΠΟ ΤΗΝ IFN ΕΞΑΡΤΑΤΑΙ ΑΠΟ ΤΗΝ ΔΙΑΡΚΕΙΑ ΕΠΕΞΕΡΓΑΣΙΑΣ ΜΕ IFN. ΑΝ ΟΜΩΣ Η ΕΠΕΞΕΡΓΑΣΙΑ ΥΠΕΡΒΕΙ ΤΙΣ 16 ΩΡΕΣ ΤΟ ΦΑΙΝΟΜΕΝΟ ΤΗΣ ΑΝΑΣΤΟΛΗΣ ΑΝΤΙΣΤΡΕΦΕΤΑΙ ΕΚΤΟΣ ΑΝ ΓΙΝΕΙ ΑΝΑΝΕΩΣΗΣ ΤΗΣ IFN ΣΤΟ ΘΡΕΠΤΙΚΟ ΜΕΣΟ . ΕΠΕΙΔΗ ΤΕΛΟΣ Η ΑΝΑΣΤΟΛΗ ΜΕΤΑΓΡΑΦΗΣ ΤΟΥ RNA ΤΟΥ Τ-ΑΝΤΙΓΟΝΟΥ ΕΙΝΑΙ ΜΙΚΡΟΤΕΡΗ ΑΠΟ ΑΥΤΗ ΤΗΣ ΜΕΤΑΦΡΑΣΗΣ, ΠΡΟΤΕΙΝΟΥΜΕ ΟΤΙ Η IFN ΔΡΑ ΚΑΙΣΤΗ ΜΕΤΑΓΡΑΦΗ ΚΑΙ ΣΤΗ ΜΕΤΑΦΡΑΣΗ ΤΟΥ Τ-ΑΝΤΙΓΟΝΟΥ

The effect of 3,4-methylenedioxymethamphetamine (MDMA) on human genetic material: an in vitro study

Background: 3,4-methylenedioxymethamphetamine (MDMA), is a synthetic illicit psychostimulant drug  that affects  mood and social interactions. The aim of the present study is to investigate the in vitro effect of MDMA on human genetic material, by estimating sensitive cytogenetic indices.Methods: MDMA solutions (A=15μg/ml, B=30μg/ml, C=45μg/ml, D=60μg/ml, E=75μg/ml) were added in cultures of peripheral blood lymphocytes of four healthy donors. After 72 hours of incubation, the cultured lymphocytes were collected, plated on glass slides, stained with the Fluorescence plus Giemsa method and SCEs, PRI and MI were measured with the optical microscope. Sister Chromatid Exchanges (SCEs) is a sensitive marker of genotoxicity, Proliferation Rate Index (PRI) is a reliable marker of cytostatic activity and Mitotic Index (MI) is a reliable indicator of cell ability to proliferate.Results: Result analysis revealed: a) a statistically significant (p=0.001) reduction of SCEs on lower MDMA concentration and a significant induction (p=0.001) of SCEs after the effect of higher MDMA concentrations, b) PRI and MI reduction (p=0.001) after the effect of MDMA concentrations 45, 60 and 75μg/ml. Correlation was observed between a) SCE and PRI index variations, b) MI and SCE index variations and c) PRI and MI index variations. Conclusions: MDMA exhibited an interesting cytogenetic activity in vitro. It seems to affect human T lymphocytes by epigenetic and DNA replication modifications. This may provide additional information about the mechanism of action of the drug. Further studies in other cell lines and in vivo experimental settings are needed in order to evaluate its potential effects on human genetic material

Screening for adeno-associated viruses and human papillomaviruses in greek women with no cervical lesion

In order to investigate the correlation between human papillomaviruses (HPV), causative agents of cervical cancer, and adeno-associated viruses (AAV), possible protective factor from this disease, we evaluated first the prevalence of cervical infection by these two viruses in asymptomatic Greek females (i.e. with normal cervices and no pathologic history). Our data indicates relatively low prevalence for both viruses (8.8% for HPV and 17.7% for AAV), compared to studies from other countries. This report is the first concerning prevalence of cervical AAV infection in Greece

Association of rs738409 Polymorphism in Adiponutrin Gene with Liver Steatosis and Atherosclerosis Risk Factors in Greek Children and Adolescents

Non-alcoholic fatty liver disease (NAFLD) shares several risk factors with atherosclerosis, as it is associated with components of the metabolic syndrome. However, genetic variations have also been linked to the risk of NAFLD, such as adiponutrin/patatin-like phospholipase domain-containing the protein 3 (PNPLA3) rs738409 polymorphism. The aim of the study was to determine the associations of thePNPLA3 rs738409 polymorphism with NAFLD and atherosclerosis risk factors in children and adolescents from northern Greece. A total of 91 children/adolescents who followed a Mediterranean eating pattern with no particular restrictions were studied. They were divided into three subgroups, according to their body mass index (BMI) and the presence or absence of liver disease. Diagnosis of NAFLD was based on a liver ultrasound, while the distribution of the PNPLA3 rs738409 polymorphism was investigated in all the participants. From the components of metabolic syndrome, only BMI, waist circumference, blood pressure, and the homeostasis model of insulin resistance (HOMA-IR) differed significantly between groups. The rs738409 polymorphism was significantly associated with BMI and NAFLD, while lipid values had no significant association with either NAFLD or gene polymorphism. This study shows that in Greekchildren, there is a significant association between the rs738409polymorphism in the PNPLA3 gene and hepatic steatosis, regardless of bodyweight