An in-vitro investigation of the effect of perfluorooctane sulphonate on cell lines of embryonic origin

Fluorinated organic compounds, such as perfluorooctane sulfonate, are stable chemicals with a wide range of industrial applications. The potential toxicity of perfluorooctane sulfonate is not well characterized, and even less known are the mechanisms underlying its toxic effects. Perfluorooctane sulfonate change of inner mitochondrial membrane permeability has been implicated as a potential mechanism of toxicity. In this study, we research that perfluorooctane sulfonate effects the expression of Apaf1 and Caspase3 genes in the amnion and fetal lung cell line that initiate the cells to undergo apoptosis. The expression of Caspase3 and Apaf1 was determined by using quantitative RT-PCR. In the study there is significant increase in expression of Caspase3 and Apaf1 in amnion and fetal lung cell line exposed to high dose (p < 0.001, p = 0.004). Also there is significant increase in cell lines exposed for a long period of time to perfluorooctane sulfonate (p = 0.001). But no significant increase was seen in the low doses and exposed for a short period of time. In conclusion, apoptotic gene expression is increase in cells exposed perfluorooctane sulfonate by dose dependent manner was determined. So this work is the first study examines the apoptotic effects of perfluorooctane sulfonate in human embryonic cells it will lead the way to the other topical studies. © 2014 Springer Science+Business Media

Partial trisomy 4q and partial monosomy 9p in a girl with choanal atresia and various dysmorphic findings

We report a new-born girl with partial trisomy of 4q28-qter and partial monosomy of 9p24-9ter. Our patient has choanal atresia, hypertelorism, wide nasal bridge, high arched palate, discrete nipples, heart defects, myoclonic seizures and various dysmorphic findings. Standard chromosomal analysis with G-banding with Trypsin-Giemsa revealed 46,XX,der(9)t(4;9)(q28;p24) resulting from the mother's t(4,9) (q28;p24) karyotype. Deletions of the terminal part of 9p and partial trisomy of chromosome 4q are rare chromosomal alterations. To our knowledge, this is the first report of choanal atresia in a patient with a partial trisomy of 4q28-qter and partial monosomy 9p24-9ter combination, which were detected by integrated cytogenetic and genomic analysis. © 2015

The relation of PON1-L55M gene polymorphism and clinical manifestation of Behcet's disease

Purpose: Behçet's disease is a multisystem disease characterized by recurrent oral and genital ulcers, relapsing uveitis, mucocutaneous, articular, gastrointestinal, neurologic, and vascular manifestations. Paraoxonase is believed to play an important role in protection of LDL and HDL particles from oxidation, in antioxidant effect against lipid peroxidation on cellular membranes, and in anti-inflammatory process. Lipid peroxidation and free oxygen radicals have been thought to play a role in pathogenesis of BD. The association of paraoxonase gene polymorphisms with Behçet's Disease in a group of Turkish patients with clinical manifestations and healthy controls has been investigated. Patients and Methods: Paraoxonase (PON-1-L55M) gene polymorphism was investigated in 50 Behcet patients and 50 healthy individuals with a PCR/RFLP method. Results: There were significant differences between patients and the control group in allele frequencies of the PON1 L55M polymorphism (p=0.04). Also, when patients were compared with the control group according to clinical manifestations, this statistical significance was getting sharper. Compared with the PON55 L allele, the M allele was associated with greater than 3.5 fold (OR 3.5, 95% CI 1.3-8.9) increased risk of ocular (OR 2.4, 95% CI 1.1-5.3), 2.4 fold joint and 3.1 fold (OR 3.1, 95% CI 1.1-8.4) central nervous system manifestations of BD. Conclusion The PON L55M gene polymorphism seemed to play a role in the pathogenesis of BD

The association of FOXO3A gene polymorphisms with serum FOXO3A levels and oxidative stress markers in vitiligo patients

Vitiligo is an acquired epidermal pigment loss of the skin. Oxidative stress is one of the major theories in the pathophysiology of vitiligo. FOXO3A is the forkhead members of the class O (FOXO) transcription factors, and plays an important role in cell cycle regulation, apoptosis, oxidative stress, and DNA repair. The aim of our study was to investigate FOXO3A gene polymorphisms and FOXO3A protein levels, activities of superoxide dismutase (SOD) and catalase antioxidant enzymes in vitiligo patients and healthy controls. Moreover, the level of plasma advanced oxidation protein products (AOPP) in subjects was evaluated to understand the possible role of protein oxidation in disease etiology. Study groups included 82 vitiligo patients and 81 unrelated healthy controls. FOXO3A polymorphisms were determined using polymerase chain reaction-restriction fragment length polymorphism method. FOXO3A levels and catalase activity were measured by ELISA whereas AOPP levels and SOD activity was measured by spectrophotometric analysis. We found a significant relationship between rs4946936 polymorphism of FOXO3A gene and vitiligo/active vitiligo patients (p = 0.017; p = 0.019 respectively), but not for rs2253310 (p > 0.05). SOD activity and AOPP levels of vitiligo patient were increased compared with control group, whereas FOXO3A levels and catalase enzyme activity of vitiligo patient were decreased compared with control group (p < 0.05). Our study indicates that rs4946936 of FOXO3A gene may associate susceptibility of vitiligo, especially active vitiligo. Moreover, our results confirm that oxidative stress may play a role in the pathophysiology of vitiligo. Further studies with larger samples are required to elucidate the role of FOXO3A in vitiligo. © 2013 Elsevier B.V

A SEVERELY MENTAL AND MOTOR RETARDED BOY WITH MONOSOMY 9pter -> p22, TRISOMY 10q26 -> qter DUE TO PATERNAL RECIPROCAL TRANSLOCATION 46,XY,t(9;10)(p23;q26)

WOS: 000299356300012PubMed: 22303803A severely mental and motor retarded hoe with monosomy 9pter -> p22, trisomy 10q26 -> qter due to paternal reciprocal translocation 46,xy,t(9;10)(p23;q26): We report on a twenty-two months old male patient with hypotonia, mental and motor retardation and trigonocephaly. Standard GTG banding chromosomal analysis (from metaphyses of a periferal blood lymphocyte culture) showed 46,XY, der(9) monosomy 9pter -> p22, trisomy 10q26 -> qter karyotype. This unbalanced translocation resulted from the father's (9,10) (p22;p26) karyotype. Deletions of the terminal part of 9p and partial trisomy of chromosome 10q are rare chromosomal disorders. To our knowledge, this is the first case report in the literature of a deletion of 9pter -> p22.3 and a duplication of 10q26 -> qter. We assume that the clinical anomalies are due to der(9) monosomy 9pter -> p22, trisomy 10q-26qter

The role of forkhead box class O3A and SIRT1 gene variants in early-onset psoriasis

Background: Psoriasis is a chronic inflammatory skin disorder, which is characterized by a heightened immunological response. Although the immunogenetics of this chronic inflammatory disorder is poorly understood, its expression is known to be dependent on proinflammatory cytokines. It is known that two distinct subtypes of chronic plaque psoriasis: Early-onset psoriasis (EOP) before the age of 40 years and late-onset psoriasis after the age of 40 years. Forkhead box class O3A (FOXO3A) is a transcription factor, which plays an important role in cell-cycle regulation, apoptosis, oxidative stress, and DNA repair. The silent information regulator (SIRT) is thought to have a role in skin disorders, including psoriasis, that are characterized by hyperproliferation and inflammation. Aim: The aim of this study was to investigate FOXO3A and SIRT1 gene polymorphisms in EOP. Methods: The study group consisted of 142 EOP patients and 123 unrelated healthy controls. FOXO3A polymorphisms were determined using the polymerase chain reaction (PCR)-restriction fragment length polymorphism method. SIRT1 gene polymorphisms were determined by PCR-confronting two-pair primers methods. Results: The FOXO3A rs4946936 and SIRT1 rs7069102 gene polymorphisms were positively correlated with EOP and disease severity. The GG genotype frequency of SIRT1 rs7069102 gene polymorphisms was increased in severe EOP. The CC frequency of FOXO3A rs4946936 was increased in EOP with nail disorders. Conclusion: The rs7069102 gene polymorphism of SIRT1 and rs4946936 polymorphism of FOXO3A are associated with early onset psoriasis; this may be responsible for increased keratinocyte proliferation in the pathogenesis of psoriasis and disease severity. © 2018 Indian Journal of Dermatology | Published by Wolters Kluwer - Medknow

Interleukin 18 gene polymorphism is a risk factor for multiple sclerosis

Proinflammatory cytokines with immunosuppressive properties play an important role in the pathogenesis of multiple sclerosis (MS). Interleukin 18 (IL-18) is one of the most important innate cytokines produced from macrophages in the early stages of the inflammatory immune response. The purpose of this study was to determine whether there was any relationship between IL18 gene polymorphisms and MS. IL18 genotyping were performed in 101 MS patients and 164 control subjects by using the PCR-restriction fragment length polymorphism (PCR-RFLP) method. The frequency of MS patients with the CC genotype of the IL18 gene at position -137 was significantly higher than with the GG genotype [p = 0.01, odds ratio (OR) 3.17]. In haplotype analysis of two SNPs in the IL18 gene, frequency of the CC haplotype was significantly higher in MS patients (p = 0.002, OR 3.0). However, the genotype distribution of the IL18 -607 C/A polymorphism in the MS patient group was not significantly different from that of the control group. These data suggest that IL18 gene polymorphisms at position -137 might be a genetic risk factor for MS in the Turkish population. © 2014 Springer Science+Business Media