Klinefelter syndrome (KS) is a common sex chromosome-related abnormality seen among men. KS negatively affects spermatogenesis and testosterone production. It increases the risk of thrombosis but its molecular mechanism has not been well described yet. Elevated PAI-1 is a risk factor for thrombosis. The rs1799889 polymorphism located in the promoter region of the PAI-1 gene was detected in patients with deep venous thrombosis. In this study, the PAI-1 gene variant and its plasma levels in KS patients were examined. Forty-one KS patients (47, XXY) and 50 age-matched healthy controls participated. DNA was isolated from peripheral blood and a real-time PCR method was used to detect known SNPs in the PAI-1 gene. In addition, PAI-1 plasma levels were measured by using ELISA method. There was no significant difference between PAI-1 gene polymorphisms of KS patients and controls (p > .05). The significant difference was observed in PAI-1 plasma levels between two groups (high PAI-1 plasma level in KS patients compared to controls). The patients’ group mean was 55.13 and control group mean in PAI-1 level was 29.89 ng/ml (p = .020). Clinical features related to thromboembolism especially varicose veins were detected in KS patients frequently (p = .04). These results suggest that thromboembolism related to clinical features is seen more frequently in cases with KS, but it may not be dependent only on the PAI-1 gene polymorphism structure.
Background/aim: Acrylamide is a cytotoxic, genotoxic and neurotoxic chemical for human. High level of acrylamide uptake causes genotoxic and neurotoxic effects, however the cellular damage mechanisms of long-term low-dose acrylamide uptake are not fully known yet. The present study investigated the cytotoxic and genotoxic effects of acrylamide on the HEK293 cells. Materials and methods: Genotoxic effects of acrylamide were examined by micronuclei formation assay and its impact on the cell viability was measured by MTT reduction assay. For studying genotoxicity and determining the source of the micronucleus, FISH (Fluorescent in Situ Hybridization) assay was applied. The effect of acrylamide on oxidative stress, as well as oxidative stress pathway markers such as glutathione (GSH), superoxide dismutase (SOD) and catalase (CAT) were investigated. Results: Acrylamide reduced cell viability significantly. Radical oxygen species formed by the metabolism of acrylamide has increased oxidative stress in cells and the amount of SOD significantly decreased. The amount of GSH decreased in proportion to the increase in the amount of hydrogen peroxide and the level of oxidized GSH (GSSG) has declined. Conclusion: Our work has supported that the induction of oxidative stress causes cell death and carcinogenesis. Consequently acrylamide, for the HEK293 cell line is shown to be a cytotoxicity, genotoxicity, and oxidative stress enhancer.
Background 17q12 microdeletion syndrome is a rare autosomal dominant chromosomal anomaly, caused by the deletion of a 1.4 Mb-spanning DNA sequence on the long arm of chromosome 17. Herein, we report the first bipolar disease (BPD) case with a 1.6-Mb deletion in the 17q11.2-17q12 chromosome region. Materials and methodsPhysical examination of the case was performed. Karyotype and microarray analyses were performed for the case and the parents. ResultsPhysical examination revealed mild dysmorphic features such as high and forehead, full cheeks, slightly depressed nasal bridge and arched eyebrow. Chromosomal analysis of the patient revealed 46, XX, del(17)(q12) karyotype, and parents' karyotype were normal. In the microarray analysis of patient, 1.6 megabases deletion was detected in the 17q12 region [arr(hg19) 17q12 (34,611,352-36,248,918) ×1]. The microarray analysis of the mother was normal. The father's microarray showed 473 kilobases duplication in the 11p11.12 region. ConclusionAlthough 17q12 deletion syndrome has been associated with bipolar disorder, very few such cases have been described in the literature. Genetic counseling should be considered in patients with remarkable phenotype, complex symptomatology, neurodevelopmental disorder and additional conspicuous medical conditions.
Objectives This study was aimed to investigate the effects of garlic oil (GO), an important natural constituent used in alleviating diabetes and its complications, on the expression levels of irisin and related genes. Methods Thirty-two rats were divided into four groups: Control, Diabetes-Control, Diabetes+GO 100 mg/kg/day and Control+GO 100 mg/kg/day for 45 days. The measurements included: changes in liver Peroxisome proliferator-activated receptor-gamma-coactivator (PGC)-1α, Fibronectin Type-III-Domain-Containing5 (FNDC5), irisin expression, mRNA expression of p38 and TNF-α (Tumour necrosis factor-α), total-antioxidant-status (L-TAS; S-TAS), total-oxidant-status (L-TOS; S-TOS) in liver and serum, respectively. Key findings There was a significant reduction in serum levels of irisin and S-TAS and expression of PGC-1α and FNDC5 in liver in Diabetes-control compared to Control-group, while a significant increase in serum levels of fasting blood glucose (FBG) and TOS, also p38 and TNF-α expressions in liver. In Diabetes+GO group, there was a significant increase in serum irisin and S-TAS, also expression of PGC-1α and FNDC5 in liver, while serum FBG, S-TOS levels, and mRNA expression of p38 and TNF-α in liver were decreased compared to Diabetes-control group (P < 0.05). Conclusions GO alleviated the diabetic liver injury by decreasing Oxidative-Stress parameters and regulation PGC-lα, FNDC5, irisin and P38, keeping the balance of TAS/TOS and TNF-α.
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