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

Relationship between genetic polymorphisms MTHFR (C677T, A1298C), MTR (A2756G) and MTRR (A66G) genes and multiple sclerosis: a case-control study

Recent studies have reported elevated plasma homocysteine and reduced folate and vitamin B levels in patients with multiple sclerosis (MS). In this study, we aimed to investigate the association between MS and the following four DNA polymorphisms: MTR A[2756]G, MTHFR C[677]T, MTHFR A[1298]C and MTRR A[66]G. The DNA polymorphisms were genotyped in 80 patients with confirmed MS and 80 healthy control age- and gender-matched subjects using PCR-RFLP approach. Our results show that the frequency of the T/T genotype homozygotes for the MTHFR C[677]T polymorphism was significantly higher in patients than in controls (p = 0.04, OR: 3.16, 95% CI: 1.23-8.17). In turn, the A/A genotype of the MTHFR A[1298]C polymorphism was more frequent in controls than in patients (41.3% vs. 32.5%, p = 0.04). There were no differences in distribution of genotypes for the MTR A[66]G and MTR A[2756]C polymorphisms between patients with MS and controls (p > 0.05). Our findings suggested that the MTHFR C[677]T and MTHFR A[1298] C gene polymorphisms might be associated with MS as genetic factors influencing the risk of the disease.Scientific Research Projects Coordination Unit of Canakkale Onsekiz Mart University [TSA-972]This work was supported by the Scientific Research Projects Coordination Unit of Canakkale Onsekiz Mart University. Project Number: TSA-972

FA monoalkylesters from rice bran oil by in situ esterification

Extraction and in situ esterification of rice bran oil with ethanol were investigated by studying the effects of rice bran oil FFA content and water content of ethanol. Ethyl ester formation in the ethanol phase increased as FFA content increased. Neutral oil solubility in this phase fell considerably, resulting in a high ethyl ester content. The decrease of the water content in ethanol led to an increase in neutral oil solubility in ethanol and promoted the equilibrium of reaction to ethyl-ester formation, resulting in lower FFA content of the product. The main factor that affected yield and monoester content when using high-acidity bran and various monohydroxy alcohols was the solubility of neutral oil in alcohol. The highest monoester content was obtained with methanol

Rice bran FFA determination by diffuse reflectance IR spectroscopy

Rice bran with FFA levels above 0.1% cannot be used as a food ingredient due to oxidative off-flavor formation. However, extracting high FFA oil from bran by in situ methanolic esterification of rice bran oil to produce methyl ester biodiesel produces greater yields relative to low-FFA rice bran oil. Therefore, high-FFA bran could be exploited for biodiesel production. This study describes an FTIR spectroscopic method to measure rice bran FFA rapidly. Commercial rice bran was incubated at 37degreesC and 70% humidity for a 13-d incubation period. Diffuse reflectance IR Fourier transform spectra of the bran were obtained and the percentage of FFA was determined by extraction and acid/base titration throughout this period. Partial least squares (PLS) regression and a calibration/validation analysis were done using the IR spectral regions 4000-400 cm(-1) and 1731-1631 cm(-1). The diffuse reflectance IR Fourier transform spectra indicated an increasing FFA carbonyl response at the expense of the ester peak during incubation, and the regression coefficients obtained by PLS analysis also demonstrated that these functional groups and the carboxyl ion were important in predicting FFA levels. FFA rice bran changes also could be observed qualitatively by visual examination of the spectra. Calibration models obtained using the spectral regions 4000-400 cm(-1) and 1731-1631 cm(-1) produced correlation coefficients R and root mean square error (RMSE) of cross-validation of R = 0.99, RMSE = 1.78, and R = 0.92, RMSE = 4.67, respectively. Validation model statistics using the 4000-400 cm(-1) and 1731-1631 cm(-1) ranges were R = 0.96, RMSF = 3.64, and R = 0.88, RMSE = 5.80, respectively

Purification of FAME by rice hull ash adsorption

Rice hull ash (RHA) and silica gel were used for purification of FAME by adsorption of FFA at atmospheric conditions. Studies demonstrated that silica gel is a better adsorbent than RHA in purifying FAME. However, both adsorbents were effective in reducing FFA levels from FAME extracts. The FFA adsorption efficiency increased with high FAME concentration and high adsorbent dosage. But FAME adsorption also increased with larger doses of adsorbent. The adsorption isotherms of FFA were determined with both adsorbents. FFA adsorption displayed Freundlich-type isotherms

Variables affecting the yields of methyl esters derived from in situ esterification of rice bran oil

The influence of specific factors on in situ methanolic esterification of rice bran oil (RBO) using sulfuric acid catalyst was investigated. Using high-FFA rice bran was found to be the most effective means to increase methyl ester yields. The ester content of the extract increased about 67% when the FFA content of oil was increased from 16.6 to 84.5%. Increasing the reaction time beyond 30 min did not affect yields. Increasing the temperature from 20 to 65degreesC elevated the FAME yield by about 30%, but increasing the amount of acid catalyst above 5 mL did not enhance yield, and increasing the methanol dose from 200 to 250 mL had a negligible effect

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