Effect Of G2706A and G1051A polymorphisms of the ABCA1 gene on the lipid, oxidative stress and homocystein levels in Turkish patients with polycystıc ovary syndrome

<p>Abstract</p> <p>Background</p> <p>Obesity, insulin resistance and hyperandrogenism, crucial parameters of Polycystic ovary syndrome (PCOS) play significant pathophysiological roles in lipidemic aberrations associated within the syndrome. Parts of the metabolic syndrome (low HDL and insulin resistance) appeared to facilitate the association between PCOS and coronary artery disease, independently of obesity. ABCA1 gene polymorphism may be altered this components in PCOS patients.</p> <p>In this study, we studied 98 PCOS patients and 93 healthy controls. All subjects underwent venous blood drawing for complete hormonal assays, lipid profile, glucose, insulin, malondialdehyde, nitric oxide, disulfide levels and ABCA genetic study.</p> <p>Results</p> <p>In PCOS group fasting glucose, DHEAS, 17-OHP, free testosterone, total-cholesterol, triglyceride, LDL-cholesterol and fibrinogen were significantly different compare to controls. The genotype ABCA G2706A distribution differed between the control group (GG 60.7%, GA 32.1%, AA 7.1%) and the PCOS patients (GG 8.7%, GA 8.7%, AA 76.8%). The frequency of the A allele (ABCAG2706A) was higher in PCOS patients than control group with 13,0% and 23,2%, respectively. In this study, the homocystein and insulin levels were significantly higher in PCOS patients with ABCA G1051A mutant genotype than those with heterozygote and wild genotypes.</p> <p>Conclusions</p> <p>We found higher percentage of AA genotype and A allele of ABCA G2706A in PCOS patients compare to controls. The fasting insulin and homocystein levels were significantly higher in PCOS patients with ABCA G1051A mutant genotype than those with heterozygote and wild genotypes.</p

The Relationship of the Peroxisome Proliferator Activated ReceptorGamma 2 Exon 2 and Exon 6 Gene Polymorphism in Type 2 Diabetic Patients with and without Diabetic Foot Ulcers

We aims investigate Turkish type 2 diabetic patients with/without diabetic foot ulcers and healthy group and examined the contribution of the G/C exon 2 and T/C exon 6 of the PPARgamma gene polymorphism to the development of diabetic foot ulcers. The PPARgamma genotypes were determined prospectively in 50 patients with diabetic foot ulcers and 50 without diabetic foot ulcers and a control group of 50 healthy individuals. Genotyping of the G/C exon 2 and T/C exon 6 of the PPAR-gamma gene polymorphism for all individuals was performed by melting curve analysis of the generated amplicons after real-time online PCR. The genotype exon 2 and exon 6 distribution did not differ between the control group and the type 2 diabetes mellitus patients (with and without diabetic foot) (P&gt;0.05). The frequency of the polymorphic G allele in exon 2 was no similar for the groups (6% and 1%, respectively) (p0.05). The evaluation of exon 2 and exon 6, genotype and haplotype did not show statistically significant difference between the patient diabetic foot and without diabetic foot (p&gt;0.05). The G/C exon 2 and T/C exon 6 of the PPARgamma gene polymorphism is not an independent risk factor for diabetic foot in Turkish type 2 diabetes mellitus patients. Genetic factors in the pathogenesis of diabetic foot may also show any changes in different populations. [Med-Science 2014; 3(4.000): 1582-94

Medicine Science 2014;3(4):1582-94 Peroxisome Proliferator-Activated Receptor-Gamma 2 Gene Polymorphism in diabetic Foot Ulcers Original Investigation The Relationship of the Peroxisome Proliferator Activated Receptor-Gamma 2 Exon 2 and Exon 6 Gene Polymo

Abstract We aims investigate Turkish type 2 diabetic patients with/without diabetic foot ulcers and healthy group and examined the contribution of the Pro12Ala exon 2 and C478T exon 6 of th

Matrine induced G(0)/G(1) arrest and apoptosis in human acute T-cell lymphoblastic leukemia (T-ALL) cells

WOS: 000433285000005PubMed ID: 29045804Matrine, a natural product extracted from the root of Sophora flavescens, is a promising alternative drug in different types of cancer. Here, we aimed to investigate the therapeutic effects and underlying molecular mechanisms of matrine on human acute lymphoblastic leukemia (ALL) cell line, CCRF-CEM. Cell viability and IC50 values were determined by WST-1 cell cytotoxicity assay. Cell cycle distribution and apoptosis rates were analyzed by flow cytometry. Expression patterns of 44 selected miRNAs and 44 RNAs were analyzed by quantitative reverse transcription polymerase chain reaction (qRT-PCR) using the Applied Biosystems 7500 Fast Real-Time PCR System. Matrine inhibited cell viability and induced apoptosis of CCRF-CEM cells in a dose-dependent manner. Cell cycle analysis demonstrated that matrine-treated CCRF-CEM cells significantly accumulated in the G(0)/G(1) phase compared with the untreated control cells. hsa-miR-376b-3p (-37.09 fold, p = 0.008) and hsa-miR106b- 3p (-16.67 fold, p = 0.028) expressions were decreased, whereas IL6 (95.47 fold, p = 0.000011) and CDKN1A (140.03 fold, p = 0.000159) expressions were increased after matrine treatment. Our results suggest that the downregulation of hsa-miR-106b-3p leads to the upregulation of target p21 gene, CDKN1A, and plays a critical role in the cell cycle progression by arresting matrine-treated cells in the G(0)/G(1) phase

* Concordance in molecular genetic analysis of tumour tissue, plasma, and exhaled breath condensate samples from lung cancer patients

Yalcin, Femin/0000-0003-0602-9392; Tetik Vardarli, Asli/0000-0001-9890-3256; Aldag, Ceyda/0000-0003-3130-4739; Pelit, Levent/0000-0001-8090-703XWOS: 000528569000001PubMed: 32031993Aim. Lung adenocarcinoma is characterized by poor prognosis and short survival rates. Therefore, tools to identify the tumoural molecular structure and guide effective diagnosis and therapy decisions are essential. Surgical biopsies are highly invasive and not conducive for patient follow-up. To better understand disease prognosis, novel non-invasive analytic methods are needed. the aim of the present study is to identify the genetic mutations in formalin-fixed paraffin-embedded (FFPE) tissue, plasma, and exhaled breath condensate (EBC) samples by next-generation sequencing and evaluate their utility in the diagnosis and follow-up of patients with lung adenocarcinoma. Method. FFPE, plasma, and EBC samples were collected from 12 lung adenocarcinoma patients before treatment. DNA was extracted from the specimens using an Invitrogen PureLink Genomic DNA Kit according to the manufacturer's instructions. Amplicon-based sequencing was performed using Ion AmpliSeq Colon and Lung Cancer Research Panel v2. Results. Genetic alterations were detected in all FFPE, plasma, and EBC specimens. the mutations in PIK3CA, MET, PTEN, SMAD4, and FGFR2 genes were highly correlated in six patients. Somatic and novel mutations detected in tissue and EBC samples were highly correlated in one additional patient. the EGFR p.L858R and KRAS p.G12C driver mutations were found in both the FFPE tissue specimens and the corresponding EBC samples of the lung adenocarcinoma patients. Conclusion. the driver mutations were detected in EBC samples from lung adenocarcinoma patients. the analysis of EBC samples represents a promising non-invasive method to detect mutations in lung cancer and guide diagnosis and follow-up.Scientific and Technological Research Council of TurkeyTurkiye Bilimsel ve Teknolojik Arastirma Kurumu (TUBITAK) [TUBITAK-1003-216S591, 216S435]The research project was supported by the Scientific and Technological Research Council of Turkey (TUBITAK-1003-216S591 and 216S435)