Exploring the Potential of Thymoquinone-Stabilized Selenium Nanoparticles: In HEC1B Endometrial Cancer Cells Revealing Enhanced Anticancer Efficacy.

The aim of this research is to examine the potential anticancer properties of thymoquinone (TQ)-encapsulated selenium nanoparticles (TQ-SeNPs) in HEC1B endometrial carcinoma cells. TQ-SeNPs were synthesized, and their size, morphology, and elemental analysis were characterized. Morphological changes were examined by using scanning electron microscopy (SEM). The cytotoxicity and viability of nanothymoquinone were assessed by the XTT (2,3-bis (2-methoxy-4-nitro-5-sulfophenyl)-2H-tetrazolium-5 carboxanilide) assay. Gene expressions and protein levels of the mitogen-activated protein kinase (MAPK) signaling pathway were analyzed by real-time PCR and enzyme-linked immunosorbent assay (ELISA), respectively. The decrease in the viability of HEC1B endometrial carcinoma cells was observed in a time- and dose-dependent manner. HEC-1B cells were treated with TQ-SeNP at 40-640 µg/mL concentrations and time intervals, and their viability was assessed by XTT assay. IC50 doses of TQ-SeNP in HEC1B cells were detected as 526.45 µg/mL at 48th hour. ELISA indicated that TQ-SeNP treatment reduced the level of p38 MAPK. ERK2, MEK2, and NFKB (p65) mRNA expressions were decreased in the dose group administered TQ-SeNP at the 48th hour compared to that in the control group. However, it was not significant. The novel nanoparticle showed an antiproliferative effect in endometrial cancer cells. However, further studies are needed to increase the anticancer activity of the cell in the TQ-SeNP interaction.

Analysis of mitochondrial DNA cytochrome-b (CYB) and ATPase-6 gene mutations in COVID-19 patients.

Coronavirus disease of 2019 (COVID-19) is a pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Mutations of mitochondrial DNA (mtDNA) are becoming increasingly common in various diseases. This study aims to investigate mutations in the cytochrome-b (CYB) and adenosine triphosphatase-6 (ATPase-6) genes of mtDNA in COVID-19 patients. The association between mtDNA mutations and clinical outcomes is investigated here. In the present study, mutations of the mtDNA genes CYB and ATPase-6 were investigated in COVID-19 (+) (n = 65) and COVID-19 (-) patients (n = 65). First, we isolated DNA from the blood samples. After the PCR analyses, the mutations were defined using Sanger DNA sequencing. The age, creatinine, ferritin, and CRP levels of the COVID 19 (+) patients were higher than those of the COVID-19 (-) patients (p = 0.0036, p = 0.0383, p = 0.0305, p < 0.0001, respectively). We also found 16 different mutations in the CYB gene and 14 different mutations in the ATPase-6 gene. The incidences of CYB gene mutations A15326G, T15454C, and C15452A were higher in COVID-19 (+) patients than COVID-19 (-) patients; p < 0.0001: OR (95% CI): 4.966 (2.215-10.89), p = 0.0226, and p = 0.0226, respectively. In contrast, the incidences of A8860G and G9055A ATPase-6 gene mutations were higher in COVID-19 (+) patients than COVID-19 (-) patients; p < 0.0001: OR (95%CI): 5.333 (2.359-12.16) and p = 0.0121 respectively. Yet, no significant relationship was found between mtDNA mutations and patients' age and biochemical parameters (p > 0.05). The results showed that the frequency of mtDNA mutations in COVID-19 patients is quite high and it is important to investigate the association of these mutations with other genetic mechanisms in larger patient populations.

The Investigation of Polymorphisms in DNA Repair Genes (XRCC1, APE1 and XPD) in Women with Polycystic Ovary Syndrome

Background: PCOS was reported to arise from the interaction of genetic and environmental factors. Some studies reported that women with PCOS have DNA damage and chromosome breakage. Such studies bring to mind the genes that are involved in DNA repairing. At present, several DNA repair genes and, as products of these genes, certain polymorphisms that alter the activity of proteins are known in the literature. The aim of this dissertation is to study the genomic instability that have been reported in PCOS cases along with the relationship between XRCC1 Arg194Trp, XRCC1 Arg399Gln, APE1 Asp148Glu, and XPD Lys751Gln polymorphisms in order to contribute to the pathogenesis of PCOS. Methods: Polymorphisms in DNA repair genes have been associated with the increased risk of various diseases and could also be related to the etiology of PCOS. Therefore, we conducted a study including 114 women with PCOS and 91 controls. These polymorphisms were determined by quantitative real time PCR and melting curve analysis using LightCycler. Results: Comparing the control groups at the end of the study, the results have not shown any statistically significant difference as far as XRCC1 Arg194Trp, XRCC1 Arg399Gln, and XPD Lys751Gln polymorphisms are concerned. However, there were notable differences between the groups in terms of APE1 Asp148Glu polymorphism. Associated with this condition, it has been noted that both mutant allele (Glu) frequency (37.72 % in the study group; 19.23% in the control group, p=0.0001) and homozygous mutant genotype (Glu/Glu) frequency (%12.28 in the study group; %6.60 in the control group, p=0.015) have been higher in the study group.

Association of eNOS Gene Polymorphisms G894T and T-786C with Risk of Hepatorenal Syndrome.

Background. There are no studies investigating the relationship between endothelial nitric oxide synthase (eNOS) gene polymorphisms and hepatorenal syndrome (HRS). Aim. The purpose of this study is to elucidate whether eNOS gene polymorphisms (G894T and T-786C) play a role in the development of type-2 HRS. Methods. This study was carried out in a group of 92 patients with cirrhosis (44 patients with type-2 HRS and 48 without HRS) and 50 healthy controls. Polymorphisms were determined by polymerase chain reaction (PCR) and melting curve analysis. Results. We did not find any significant difference in allele and genotype distributions of the eNOS -T-786C polymorphism among the groups (p = 0.440). However, the frequency of GT (40.9%) and TT (13.6%) genotypes and mutant allele T (34.1%) for the eNOS G894T polymorphism were significantly higher (p < 0.001 and p < 0.001, resp.) in the HRS group than in both the stable cirrhosis (14.6%, 4.2%, and 11.5%, resp.) and the control (22.0%, 2.0%, and 13.0%, resp.) groups. Conclusion. The occurrence of mutant genotypes (GT/TT) and mutant allele T in eNOS -G894T polymorphisms should be considered as a potential risk factor in cirrhotic patients with HRS.

Prevalence of known mutations and a novel missense mutation (M694K) in the MEFV gene in a population from the Eastern Anatolia Region of Turkey.

Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by recurrent attacks of fever and serositis. Mutations in the Mediterranean fever gene (MEFV) localized on the short arm of chromosome 16 cause FMF. Over 90 MEFV missense/nonsense mutations have been identified so far in FMF patients, mostly in the 10th exon of the gene. In this study, the molecular test results of 891 patients identified as having FMF clinical symptoms referred to Molecular Genetics Laboratory of the Department of Medical Biology and Genetics, Faculty of Medicine, Inonu University, Malatya/Turkey were retrospectively evaluated. Patients were referred by their physicians for MEFV mutation detection. The DNA fragments including hot spots within the coding sequences of the MEFV gene were amplified by PCR using genomic DNA and analyzed by pyrosequencing technique. Of the 891 patients investigated, 420 (47.13%) had at least one mutation. The most frequent mutation was E148Q, followed by M694V, M680I (G/C), P369S, V726A, R761H, A744S, M694I, K695R and F479L mutations. In addition, a novel missense mutation (M694K) was reported in seven members of a family in the course of mutation screening of patients.