Relation of vitamin D and BsmI variant with temporomandibular diseases in the Turkish population.

Vitamin D (VD) levels and several variants in the vitamin D receptor (VDR) gene are associated with the occurrence of diseases of the bones and cartilage. The aim of this research was to study and compare the association of the BsmI variant in the VDR gene as well as VD levels in disc displacement with reduction (DDR) between patients and healthy controls. This was a case-control study, in which 104 patients of DDR and 102 healthy individuals were studied. The Diagnostic Criteria for Temporomandibular Disorders (DC/TMD) was used to diagnose temporomandibular diseases. The VDR BsmI variant was investigated, after extraction of genomic DNA, by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), and the VD level in serum was measured. The serum VD level was significantly different between the patient and the control group (mean (SD) 13.20 (11.02) ng/mL versus 18.44 (10.03) ng/mL, respectively) (p=0.008). Serum VD assessment revealed that serious vitamin D deficiency was more prevalent in the patients than the controls (50.96% versus 21.56%) (p=0.00001). Logistic regression analysis revealed that the bb genotype and b allele carriers of VDR BsmI variant were significantly associated with increased risk of DDR (p=0.022 and p=0.01, respectively). VDR BsmI BB genotype was higher in the control group than the patient group (p=0.045). Genotype distributions for BsmI variant in the controls and the patients were confirmed using the Hardy-Weinberg equilibrium equation. The BsmI variant of the VDR gene and VD deficiency play role in DDR aetiopathogenesis in a Turkish population. Vitamin D level and VDR BsmI variation may be effective in a possible genetic-based DC/TMD Axis III to be created in the future.

MicroRNAs expression profiles as biomarkers and therapeutic tools in Turkish patients with chronic myeloid leukemia.

AIM: In 95 % of Chronic myeloid leukemia (CML) patients, chromosomal translocation resulting in the formation of the Philadelphia (Ph) chromosome (t:9;22) is observed, which in turn leads to the formation of the BCR-ABL fusion gene. MicroRNAs (miRNAs) are a group of small and non-coding RNAs modulating gene expression via binding to the target mRNAs. We aimed to characterize the expression profiles of various miRNAs in different stages of Ph(+) CML patients. METHODS: This case-controlled study was conducted in 75 CML patients and 25 healthy controls. The subjects were categorized into 4 groups; newly diagnosed patients, treatment-response patients, treatment-failure patients, and healthy controls. Expressions of miRNAs was analyzed by RT-PCR. RESULTS: miR-150 expression was downregulated in the treatment failure patients compared to the control group (p = 0.003212) while miRNA 148b expression up-regulated in the treatment failure patients than the control group (p = 0.038016). miR-10a expression was up-regulated in newly diagnosed and treatment response patients compared to control group (p = 0.003934, p = 0.000292, respectively). It was found that miR-10a expression increased 11.17- fold in newly diagnosed patients and 9.82-fold in treatment response patients than in the control group. CONCLUSION: Our data suggest that expression profiles of miR-10a, miR-150, and miRNA 148b were correlated as biomarker and therapeutic tool in Turkish patients with CML (Tab. 2, Fig. 1, Ref. 30).

eNOS and XRCC4 VNTR variants contribute to formation of nicotine dependence and/or schizophrenia.

BACKGROUND: This study aimed to evaluate whether VNTR variants in the Endothelial Nitric Oxide Synthase (eNOS) and the XRCC4 gene play any role in nicotine dependence (ND) and/or Schizophrenia+ND (Sch+ND) ethiopathogenesis. METHODS: Present study included 100 individuals with ND, 60 patients with Sch+ND, and 70 healthy controls. These variants were analyzed using PCR. RESULTS: The cases with ND had higher eNOS VNTR-BB genotype than the healthy control subjects (p = 0.001). eNOS-AA genotype was lower in cases with Sch+ND and ND groups compared to the controls (p = 0.001, p = 0.001, respectively). eNOS-B allele was found significantly more frequently in Sch+ND group compared to the controls (p = 0.001). eNOS-A allele was significantly lower in ND group than the controls (p = 0.001). XRCC4-ID genotype was more common in the ND group than the control group (p = 0.001) as heterozygosity disadvantage. XRCC4-DD genotype was more common in the Sch+ND group compared to the controls (p = 0.035). The frequency of XRCC4-I allele was lower in the Sch+ND group compared to the controls (p = 0.012). CONCLUSIONS: Our results showed that eNOS and XRCC4 VNTR variants might play a potential role in Sch+ND and/or ND pathophysiology (Tab. 2, Ref. 48).

Effect of Cytokine Genes in the Pathogenesis and on the Clinical Parameters for the Treatment of Multiple Myeloma.

In this study, we aimed to explore the association among gene variants of five cytokines, tumor necrosis factor alpha (TNF-α), transforming growth factor beta-1 (TGF-ß1), interferon gamma (IFN-γ), interleukin-6 (IL-6), and interleukin-10 (IL-10), and clinical parameters and prognosis in patients with multiple myeloma (MM) treated with novel therapeutic drugs in Turkish population for the first time except TNF-α. We analyzed five cytokine genes in 113 cases with MM and 113 healthy controls. Cytokine genotyping was performed by the polymerase chain reaction-sequence-specific primer method (PCR-SSP). AG genotype associated with high expression in TNF-α gene (-308) variant was found to be significantly higher (p = 0.019), and GG genotype associated with low expression in TNF-α gene (-308) variant was significantly lower in MM group as compared with controls (p = 0.012). IFN-γ (+874) variant TT genotype was increased (p = 0.037), and AA genotype was decreased (p = 0.002) in MM group in contrast to controls. IFN-γ (+874) T allele was higher in MM patients compared with controls (OR = 1.985, p = 0.000), while A allele was significantly lower (OR = 0.5037, p = 0.0005). Multivariate analysis revealed that factors associated with 5-year overall survival (OS) were only IPI III (RR = 1.630, p = 0.018) and thrombocytopenia (RR = 2.207, Cox p = 0.021), while 5-year event-free survival (EFS) was associated with IPI III (RR = 1.524, p = 0.022), thrombocytopenia (RR = 2.902, p = 0.002), APSCT treatment (RR = 1.729, p = 0.035), and female gender (RR = 0.435, p = 0.002) with negative prognostic values. Our results suggested that TNF-α gene (-308) AG genotype and IFN-γ (+874) TT genotype and T allele may have a role on MM, while other cytokines were not associated with the risk of MM.

Protective effect of intravenous lipid emulsion treatment on malathion-induced ovarian toxicity in female rats.

OBJECTIVE: Malathion (MLT) is an organophosphate (OP) pesticide widely used in agriculture and for domestic purposes for several years. Intravenous lipid emulsion (ILE) has been reported to reduce toxicity caused by some lipid soluble agents. The aim of this study was to investigate the possible protective effects of ILE treatment on acute malathion toxicity in ovarian tissue of female rats. MATERIALS AND METHODS: Twenty-one adult female Wistar rats (weighted 200-250 g) were divided into three groups; control (corn oil, gavage), MLT (one administration of 100 mg/kg/ by gavage), 20% ILE (one intravenous administration of 3 ml/kg) plus the MLT group. Blood samples were collected for biochemical tests. The ovaries were removed and fixed for histopathological and immunohistochemical analyses. Malondialdehyde (MDA), superoxide dismutase (SOD), and glutathione peroxidase (GSH-Px) were investigated in ovarian tissues. Histopathological and immunohistochemical evaluations were performed through scoring ovarian tissue damage and bax/caspase-3 immunoreactivity, respectively. RESULTS: SOD activity decreased in MLT group compared to the control group in tissue samples (p = 0.012). ILE treatment significantly increased SOD activity in MLT+ILE group compared to MLT group in tissue samples (p = 0.017). MLT treatment increased significantly caspase-3 and bax immunoreactivity while ILE decreased bax and caspase-3 immunoreactivity. However, no significant difference was found for MDA levels and GSH-Px activity in both blood and tissue samples and for histopathological results. CONCLUSIONS: The present study revealed that acute oral MLT administration increased oxidative stress and apoptosis in the rats. ILE treatment partially decreased deleterious effects of MLT. Further controlled animal studies are required to define the role of ILE in acute OP poisonings.