Association of polymorphisms in APOE, p53, and p21 with primary open-angle glaucoma in Turkish patients

Purpose To investigate the association between Apolipoprotein E (APOE), tumor suppressor protein p53 (p53), and cyclin-dependent kinase inhibitor 1A (p21) genes and primary open-angle glaucoma (POAG) in a cohort of Turkish subjects. Methods Seventy-five POAG patients (49 women, 26 men) and 119 healthy subjects (67 women, 52 men) were genotyped with polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Allele and genotype frequencies between healthy subjects and glaucoma patients were compared by the χ2 test, and intraocular pressure (IOP), cup/disc ratio (C/D) and visual field indices (MD and PSD) were compared among different APOE, p53, and p21 genotypes in POAG group. A p value 0.05). POAG subjects with the ε2ε3 genotype had a worse PSD value (median=2.2) than those with the ε3ε4 genotype (median=1.77; p=0.01) and POAG subjects with the ε3ε3 genotype had worse MD and PSD values (median= -7.4 and 3.4, respectively) than those with the ε3ε4 genotype (median= -4.1 and 1.77, respectively; p=0.034 and 0.028, respectively). Conclusions Our study found no link between polymorphisms in APOE, p53, and p21 genes and POAG in Turkish patients, although a larger sample is required to elucidate the role of these polymorphisms in the pathogenesis and course of glaucoma

Biodiesel production from jatropha seeds: Solvent extraction and in situ transesterification in a single step

The objective of this study was to investigate solvent extraction and in situ transesterification in a single step to allow direct production of biodiesel from jatropha seeds. Experiments were conducted using milled jatropha seeds, and n-hexane as extracting solvent. The influence of methanol to seed ratio (2:1–6:1), amount of alkali (KOH) catalyst (0.05–0.1 mol/L in methanol), stirring speed (700–900 rpm), temperature (40–60 °C) and reaction time (3–5 h) was examined to define optimum biodiesel yield and biodiesel quality after water washing and drying. When stirring speed, temperature and reaction time were fixed at 700 rpm, 60 °C and 4 h respectively, highest biodiesel yield (80% with a fatty acid methyl ester purity of 99.9%) and optimum biodiesel quality were obtained with a methanol to seed ratio of 6:1 and 0.075 mol/L KOH in methanol. Subsequently, the influence of stirring speed, temperature and reaction time on biodiesel yield and biodiesel quality was studied, by applying the randomized factorial experimental design with ANOVA (F-test at p = 0.05), and using the optimum values previously found for methanol to seed ratio and KOH catalyst level. Most experimental runs conducted at 50 °C resulted to high biodiesel yields, while stirring speed and reaction time did not give significantly effect. The highest biodiesel yield (87% with a fatty acid methyl ester purity of 99.7%) was obtained with a methanol to seed ratio of 6:1, KOH catalyst of 0.075 mol/L in methanol, a stirring speed of 800 rpm, a temperature of 50 °C, and a reaction time of 5 h. The effects of stirring speed, temperature and reaction time on biodiesel quality were not significant. Most of the biodiesel quality obtained in this study conformed to the Indonesian Biodiesel Standard

Phenotypic and genotypic spectrum of Turkish patients with isovaleric acidemia

Dursun, Ali/0000-0003-1104-9902; Ozturk-Hismi, Burcu/0000-0001-7146-0248; Ozgul, Riza Koksal/0000-0002-0283-635XWOS: 000343331200010PubMed: 25220015We aim to investigate the genetic basis of isovaleryl-CoA dehydrogenase (IVD) gene mutations and genotype-phenotype correlations in Turkish patients. Accordingly, bi-directional sequencing was performed to screen 26 patients with isovaleric acidemia (IVA). Nine novels (c.145delC, c.234 + 3G > C, c.506_507insT, p.Glu85Gln, p.Met147Val, p.Ala268Val, p.Ile287Met, p.Gly346Asp and p.Arg382Trp) and six previously reported (c.456 + 2T > C, p.Arg21His, p.Arg21Pro, p.Arg363Cys, p.Arg363His p.Glu379Lys) pathogenic mutations were identified. Pathogenicity of the novel mutations was supported using computational programs. No clear genotype-phenotype correlation could be determined. One of the cases with the novel c.234 + 3G > C mutation has portoseptal liver fibrosis, the clinical condition that was first reported for IVA. This study is the first comprehensive report from Turkey related to IVA genetics that provides information about the high number of disease-causing novel mutations. (C) 2014 Elsevier Masson SAS. All rights reserved.[DPT-1206400603]; [TUBITAK-111S217]This study was funded by the DPT-1206400603 and TUBITAK-111S217 projects

Vitamin D receptor gene polymorphisms in multiple sclerosis disease: A case-control study

Multiple sclerosis (MS) is a common neurologic disorder that is a chronic inflammatory, demyelinating, and neurodegenerative disease of the central nervous system (CNS). Its etiology remains unknown. Several recent studies have found that decreased susceptibility to vitamin D deficiency is also associated with a decreased risk of MS. The role of vitamin D receptor (VDR) gene and its polymorphisms are highlighted as susceptible components. In this study, we aimed to identify the relationship between ApaI (rs7975232), BsmI (rs 1544410), and TaqI (rs731236) gene polymorphisms with MS. ApaI, BsmI, and TaqI genotypes were determined in 70 patients with MS and in 70 control subjects. DNA was isolated from blood samples, and then ApaI, BsmI and TaqI gene polymorphisms were identified using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. The distribution of BsmI and TaqI polymorphisms did not show any significant differences in MS patients and controls; however, increased A allele of ApaI polymorphism was found in MS patients. Our findings suggest that the ApaI gene polymorphism might be associated with MS. Investigation of a larger population and functional work on these gene structures and function in MS patients are recommended

Protective effects of melatonin and Β-D-Glucan against acetaminophen toxicity in rats

The aim of this study was to investigate the possible protective effects of melatonin and β-D-glucan against AA-induced liver injury in rats. Forty (SpraqueDawley male) rats were randomly divided into 5 experimental groups: sham, acetaminophen only (AA, 900 mg/kg), melatonin (10 mg/kg) + AA (MLT), β-D-glucan (50 mg/kg) + AA (β), and melatonin + β-D-glucan + AA (MLT+β) groups. All of the rats were killed on day 11 of the experiment. Histopathological changes and biochemical parameters including levels of serum aspartate aminotransferase (AST) and alanine aminotransferase (ALT) and liver tissue malondialdehyde (MDA), activities of superoxide dismutase (SOD), catalase (CAT), and glutathione peroxidase (GPx) were determined to assess the liver function. MDA levels were the highest in the AA group whereas activities of SOD, CAT, and GPx in the liver tissue were found as lowest in this group. MDA activities were significantly lower in the MLT+β group than in the AA group. Only GPx activities in the MLT+β group were significantly higher than those in the MLT and β groups. The serum AST and ALT levels were increased significantly following treatment with AA (p < 0.001). Pretreatment with the antioxidant compounds decreased AST levels significantly but again, the levels were still significantly higher than the sham levels (p < 0.001). There were no statistically significant differences in the microscopic damage between the S, MLT, β, and MLT+β groups (p > 0.05). This finding can be attributed to the higher efficacy of the combination of melatonin and β-D-glucan in scavenging free radicals and stimulating the antioxidant enzymes. [Med-Science 2016; 5(2.000): 539-43