Polimorfismo nos genes Metilenotetrahidrofolato redutase e cistationina-beta-sintase e a sua relação com eventos vaso-oclusivos na doença falciforme

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Desenvolvimento de sistem biomimético para análise de 3,5,6-Tricloro-2-piridinol, o principal metabólito do clorpirifós

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Variação sazonal e espacial da estrutura de comunidades dos peixes demersais da Região de Foz dos Rios Amazonas e Tocantins - PA (0º 10'S - 2º30'N; 47º50'W - 50º30'W) - Brasil

A composição, abundância e freqüência de ocorrência das espécies de peixes demersais do estuário amazônico foram estudadas em três áreas delimitadas pelos estratos de profundidade de 5 — 10 m, 10 — 20 m e 20 — 50m. Os objetivos principais deste estudo foram de comparar a diversidade, abundância e distribuição das espécies de peixes demersais, nestas três áreas, durante um ciclo hidrológico, e avaliar a influência dos fatores ambientais sobre a estrutura da comunidade. As amostragens foram feitas a bordo de dois navios da frota industrial piramutabeira, com uma rede de arrasto sem porta, em seis cruzeiros com duração de quinze dias cada, divididos entre os períodos seco (entre março e abri1/97) e chuvoso (entre agosto e setembro/97). Foram capturadas 91 espécies em 237 amostragens, sendo que as famílias Sciaenidae e Ariidae foram as mais diversificadas, representando juntas 25% do número de espécies. Todas as espécies de arlideos com ocorrência na região foram muito abundantes. As espécies mais abundantes numericamente no inverno foram Macrodon ancylodon (Sciaenidae) (56,2%) e Brachyplatystoma vaillantii (Pimelodidae) (13,6%), e no verão Macrodon ancylodon (31%) e Stellifèr rastrifer (15,8) (Sciaenidae). Na área delimitada pelas isóbatas de 5 a 10 m (área 1), Brachyplatystoma vaillantii (Pimelodidae) e Macrodon ancylodon (Sciaenidae) foram as mais abundantes em ambos os períodos. O mesmo aconteceu para Macrodon ancylodon e Stellifer rastrifer (Sciaenidae) na área definida pelas isóbatas de 10 a 20 m (área 2), e para iviacrodon ancylodon (Sciaenidae) e Bagre bagre (Ariidae) na área delimitada pelas isóbatas de 20 a 50 m (área 3). As espécies mais freqüentes nas amostragens foram Macrodon ancylodon (Sciaenidae) (40,9%) e Anchoa spinifer (Engraulididae) (35%) no inverno, e Ivlacrodon ancylodon (Sciaenidae) (45,6%) e Anus grandicassis (Ariidae) (38,4%) no verão. Na área 1 Brachyplatystoma vaillantii e Brachypialystorna flavicans (Pimelodidae) tiveram maior freqüência de ocorrência nas amostragens, para os dois períodos; o mesmo acontecendo para Macrodon ancylodon (Sciaenidae) e Bagre bagre (Ariidae), na área 2; e para Macrodon ancylodon (Sciaenidae) e Anchoa spinifer (Engraulididae), na área 3. As espécies dominantes foram: Macrodon ancylodon (Sciaenidae), no inverno (56% dos exemplares coletados); e Macrodon ancylodon, Stellifér rastrifer (Sciaenidae) e Anus quadriscutis (Afiidae) no verão, que representaram 61% das capturas. Na área 1 dominaram Brachyplatystoma vaillantii (Pimelodidae) e Macrodon ancylodon (Sciaenidae) (73%), no inverno e, no verão, as duas espécies já citadas mais Anus grandicassis (Ariidae) (53%). Na área 2 foram dominantes apenas Macrodon ancylodon (Sciaenidae) (64%) no inverno, e Macrodon ancylodon e Stellifèr rastrifer (Sciaenidae) (53%) no verão e, na área 3, apenas il/lacrodon ancylodon (Sciaenidae) (70% no inverno e 49% no verão). Os padrões de distribuição foram principalmente influenciados pela salinidade. A área 1 apresentou a maior diversidade e eqüitabilidade em relação ás outras. Na área 2 a riqueza de espécies foi maior e, na área 3, houve uma maior dominância. Três assembléias de peixes foram identificadas na região: uma composta de espécies de águas continentais que exploram as áreas rasas entre 5 a 20 m; outra é composta de espécies resistentes ao gradiente salino, com ampla distribuição no estuário, principalmente na faixa dos 10 a 20 m; e a terceira é composta de espécies marinhas que se distribuem pelas áreas mais profundas do estuário, desde os 10 até a faixa dos 50 m.

Soil microbial properties after 5 years of consecutive amendment with composted tannery sludge

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Growth and nodulation of cowpea after 5 years of consecutive composted tannery sludge amendment

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Influência da adição de fator de crescimento fibroblástico 10 (FGF10), durante a maturação oocitária, na produção in vitro de embriões bovinos

The Brazilian livestock stands out for having the world largest commercial herd of cattle and leads meat exportation and production of bovine embryos. The in vitro production (IVP) of embryos is considered an effective option to overcome problems such as infertility in cows with high economic value and also for genetic improvement of cattle. The in vitro oocyte maturation is an essential step to the success of IVP, but is still considered poor when compared to in vivo maturation. Recent studies have suggeested an important role of Fibroblast Growth Factor 10 (FGF10) on the in vitro maturation of oocytes, which favored the expression of genes related to oocyte maturation and cumulus cell expansion. Aware that maturity stage influences the final production of blastocysts, we aimed study to verify if the addition of FGF10 into the maturation medium is able to affect positively the IVP of bovine embryos. Hence, FGF10 was added to maturation in five different concentrations: 0.5 ng/mL (group 0.5), 2.5 ng/mL (group 2.5), 5 ng/mL (group 5), 10 ng/mL (group 10) and 50 ng/mL (group 50). Additionally, two other maturation groups were used, group BSA (Bovine Serum Albumin, 4 mg/mL) and group FCS (Fetal Calf Serum, 10%). The rates of cleavage, morula and blastocyst were analyzed by Analysis of Variance (ANOVA), differences of P<0.05 were considered significant. Cleavage rates did not differ between the seven groups. On the other hand, morula rate on FCS group was higher than groups BSA, 0.5, 10 and 50 (P<0.05), but did not differ among groups treated with intermediate doses of FGF10 (2.5 and 5). FCS group presented higher blastocyst rate compared to all other groups that were well below the FCS group (P<0.0001). Therefore, the use of FGF10 during oocyte maturation did not affect positively embryo development on the IVP of bovine embryos

Evaluation of plasma homocysteine level according to the C677T and A1298C polymorphism of the enzyme MTHRF in type 2 diabetic adults

Objective: To determine plasma homocysteine levels during fasting and after methionine overload, and to correlate homocysteinemia according to methylenetetrahydrofolate reductase (MTHFR) polymorphism in type 2 diabetic adults. Subjects and methods: The study included 50 type 2 diabetic adults (DM group) and 52 healthy subjects (Control group). Anthropometric data, and information on food intake, serum levels of vitamin B 12, folic acid and plasma homocysteine were obtained. The identification of C677T and A1298C polymorphisms was carried out in the MTHFR gene. Results: There was no significant difference in homocysteinemia between the two groups, and hyperhomocysteinemia during fasting occurred in 40% of the diabetic patients and in 23% of the controls. For the same polymorphism, there was not any significant difference in homocysteine between the groups. In the Control group, homocysteinemia was greater in those subjects with C677T and A1298C polymorphisms. Among diabetic subjects, those with the A1298C polymorphism had lower levels of homocysteine compared with individuals with C677T polymorphism. Conclusion: The MTHFR polymorphism (C677T and A1298C) resulted in different outcomes regarding homocysteinemia among individuals of each group (diabetic and control). These data suggest that metabolic factors inherent to diabetes influence homocysteine metabolism. Arq Bras Endocrinol Metab. 2012;56(7):429-34

Polymorphism C1420T of Serine hydroxymethyltransferase gene on maternal risk for Down syndrome

Recent researches have investigated the factors that determine the maternal risk for Down syndrome (DS) in young woman. In this context, some studies have demonstrated the association between polymorphisms in genes involved on folate metabolism and the maternal risk for DS. These polymorphisms may result in abnormal folate metabolism and methyl deficiency, which is associated with aberrant chromosome segregation leading to trisomy 21. In this study, we analyzed the influence of the polymorphism C1420T in Serine hydroxymethyltransferase (SHMT) gene on maternal risk for DS and on metabolites concentrations of the folate pathway (serum folate and plasma homocysteine and methylmalonic acid). The study group was composed by 105 mothers with DS children (case group) and 185 mothers who had no children with DS (control group). The genotype distribution did not show significant statistical difference between case and control mothers (P = 0.24) however a protective effect between genotypes CC (P = 0.0002) and CT (P < 0.0001) and maternal risk for DS was observed. Furthermore, the SHMT C1420T polymorphism (rs1979277) does not affect the concentration of metabolites of folate pathway in our DS mothers. In conclusion, our data showed a protective role for the genotypes SHMT CC and CT on maternal risk for DS. The concentrations of metabolites of folate pathway did not differ significantly between the genotypes SHMT.

LHC discovery potential for supersymmetry with root s=7 TeV and 5-30 fb(-1)

We extend our earlier results delineating the supersymmetry reach of the CERN Large Hadron Collider operating at a center-of-mass energy root s = 7 TeV to integrated luminosities in the range 5-30 fb(-1). Our results are presented within the paradigm minimal supergravity model or constrained minimal supersymmetric standard model. Using a six-dimensional grid of cuts for the optimization of signal to background ratio-including missing E-T-we find for m((g) over tilde) similar to m((q) over tilde) an LHC 5 sigma supersymmetry discovery reach of m((g) over tilde) similar to 1:3, 1.4, 1.5, and 1.6 TeV for 5, 10, 20, and 30 fb(-1), respectively. For m((q) over tilde) >> m((g) over tilde), the corresponding reach is instead m((g) over tilde) similar to 0: 8, 0.9, 1.0, and 1.05 TeV, for the same integrated luminosities.

Plasmatic higher levels of homocysteine in Non-alcoholic fatty liver disease (NAFLD)

Background Non-alcoholic fatty liver disease (NAFLD) is a chronic liver disease, which includes a spectrum of hepatic pathology such as simple steatosis, steatohepatitis, fibrosis and cirrhosis. The increased serum levels of homocysteine (Hcy) may be associated with hepatic fat accumulation. Genetic mutations in the folate route may only mildly impair Hcy metabolism. The aim of this study was to investigate the relation between liver steatosis with plasma homocysteine level and MTHFR C677T and A1298C polymorphisms in Brazilian patients with NAFLD. Methods Thirty-five patients diagnosed with NAFLD by liver biopsy and forty-five healthy controls neither age nor sex matched were genotyped for C677T and A1298C MTHFR polymorphisms using PCR-RFLP and PCR-ASA, respectively, and Hcy was determined by HPLC. All patients were negative for markers of Wilson’s, hemochromatosis and autoimmune diseases. Their daily alcohol intake was less than 100 g/week. A set of metabolic and serum lipid markers were also measured at the time of liver biopsies. Results The plasma Hcy level was higher in NAFLD patients compared to the control group (p = 0.0341). No statistical difference for genotypes 677C/T (p = 0.110) and 1298A/C (p = 0.343) in patients with NAFLD and control subjects was observed. The genotypes distribution was in Hardy-Weinberg equilibrium (677C/T p = 0.694 and 1298 A/C p = 0.188). The group of patients and controls showed a statistically significant difference (p < 0.001) for BMI and HOMA_IR, similarly to HDL cholesterol levels (p < 0,006), AST, ALT, γGT, AP and triglycerides levels (p < 0.001). A negative correlation was observed between levels of vitamin B12 and Hcy concentration (p = 0.005). Conclusion Our results indicate that plasma Hcy was higher in NAFLD than controls. The MTHFR C677T and A1298C polymorphisms did not differ significantly between groups, despite the 677TT homozygous frequency was higher in patients (17.14%) than in controls (677TT = 4.44%) (p > 0.05). The suggested genetic susceptibility to the MTHFR C677T and A1298C should be confirmed in large population based studies.

Variable Na(v)1.5 protein expression from the wild-type allele correlates with the penetrance of cardiac conduction disease in the Scn5a(+/-) mouse model

BACKGROUND: Loss-of-function mutations in SCN5A, the gene encoding Na(v)1.5 Na+ channel, are associated with inherited cardiac conduction defects and Brugada syndrome, which both exhibit variable phenotypic penetrance of conduction defects. We investigated the mechanisms of this heterogeneity in a mouse model with heterozygous targeted disruption of Scn5a (Scn5a(+/-) mice) and compared our results to those obtained in patients with loss-of-function mutations in SCN5A. METHODOLOGY/PRINCIPAL FINDINGS: Based on ECG, 10-week-old Scn5a(+/-) mice were divided into 2 subgroups, one displaying severe ventricular conduction defects (QRS interval>18 ms) and one a mild phenotype (QRS< or = 18 ms; QRS in wild-type littermates: 10-18 ms). Phenotypic difference persisted with aging. At 10 weeks, the Na+ channel blocker ajmaline prolonged QRS interval similarly in both groups of Scn5a(+/-) mice. In contrast, in old mice (>53 weeks), ajmaline effect was larger in the severely affected subgroup. These data matched the clinical observations on patients with SCN5A loss-of-function mutations with either severe or mild conduction defects. Ventricular tachycardia developed in 5/10 old severely affected Scn5a(+/-) mice but not in mildly affected ones. Correspondingly, symptomatic SCN5A-mutated Brugada patients had more severe conduction defects than asymptomatic patients. Old severely affected Scn5a(+/-) mice but not mildly affected ones showed extensive cardiac fibrosis. Mildly affected Scn5a(+/-) mice had similar Na(v)1.5 mRNA but higher Na(v)1.5 protein expression, and moderately larger I(Na) current than severely affected Scn5a(+/-) mice. As a consequence, action potential upstroke velocity was more decreased in severely affected Scn5a(+/-) mice than in mildly affected ones. CONCLUSIONS: Scn5a(+/-) mice show similar phenotypic heterogeneity as SCN5A-mutated patients. In Scn5a(+/-) mice, phenotype severity correlates with wild-type Na(v)1.5 protein expression.

Life-long growth of Quercus ilex L. at natural CO2 springs acclimates sulphur, nitrogen and carbohydrate metabolism of the progeny to elevated pCO2

The aim of the present study was to analyse whether offspring of mature Quercus ilex trees grown under life-long elevated pCO2 show alterations in the physiological response to elevated pCO2 in comparison with those originating from mature trees grown at current ambient pCO2. To investigate changes in C- (for changes in photosynthesis, biomass and lignin see Polle, McKee & Blaschke Plant, Cell and Environment 24, 1075–1083, 2001), N-, and S-metabolism soluble sugar, soluble non-proteinogenic nitrogen compounds (TSNN), nitrate reductase (NR), thiols, adenosine 5′-phosphosulphate (APS) reductase, and anions were analysed. For this purpose Q. ilex seedlings were grown from acorns of mother tree stands at a natural spring site (elevated pCO2) and a control site (ambient pCO2) of the Laiatico spring, Central Italy. Short-term elevated pCO2 exposure of the offspring of control oaks lead to higher sugar contents in stem tissues, to a reduced TSNN content in leaves, and basipetal stem tissues, to diminished thiol contents in all tissues analysed, and to reduced APS reductase activity in both, leaves and roots. Most of the components of C-, N- and S-metabolism including APS reductase activity which were reduced due to short-term elevated pCO2 exposure were recovered by life-long growth under elevated pCO2 in the offspring of spring oaks. Still TSNN contents in phloem exudates increased, nitrate contents in lateral roots and glutathione in leaves and phloem exudates remained reduced in these plants. The present results demonstrated that metabolic adaptations of Q. ilex mother trees to elevated pCO2 can be passed to the next generation. Short- and long-term effects on source-to-sink relation and physiological and genetic acclimation to elevated pCO2 are discussed.

Mineralogical assemblage in sediment core GeoB12309-5 and in area samples from the Makran subduction zone

In order to study late Holocene changes in sediment supply into the northern Arabian Sea, a 5.3 m long gravity core was investigated by high-resolution geochemical and mineralogical techniques. The sediment core was recovered at a water depth of 956 m from the continental slope off Pakistan and covers a time span of 5 kyr. During the late Holocene source areas delivering material to the sampling site did, however, not change and were active throughout the year.