977 resultados para Synthetase-i Deficiency
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Universal trees based on sequences of single gene homologs cannot be rooted. Iwabe et al. [Iwabe, N., Kuma, K.-I., Hasegawa, M., Osawa, S. & Miyata, T. (1989) Proc. Natl. Acad. Sci. USA 86, 9355-9359] circumvented this problem by using ancient gene duplications that predated the last common ancestor of all living things. Their separate, reciprocally rooted gene trees for elongation factors and ATPase subunits showed Bacteria (eubacteria) as branching first from the universal tree with Archaea (archaebacteria) and Eucarya (eukaryotes) as sister groups. Given its topical importance to evolutionary biology and concerns about the appropriateness of the ATPase data set, an evaluation of the universal tree root using other ancient gene duplications is essential. In this study, we derive a rooting for the universal tree using aminoacyl-tRNA synthetase genes, an extensive multigene family whose divergence likely preceded that of prokaryotes and eukaryotes. An approximately 1600-bp conserved region was sequenced from the isoleucyl-tRNA synthetases of several species representing deep evolutionary branches of eukaryotes (Nosema locustae), Bacteria (Aquifex pyrophilus and Thermotoga maritima) and Archaea (Pyrococcus furiosus and Sulfolobus acidocaldarius). In addition, a new valyl-tRNA synthetase was characterized from the protist Trichomonas vaginalis. Different phylogenetic methods were used to generate trees of isoleucyl-tRNA synthetases rooted by valyl- and leucyl-tRNA synthetases. All isoleucyl-tRNA synthetase trees showed Archaea and Eucarya as sister groups, providing strong confirmation for the universal tree rooting reported by Iwabe et al. As well, there was strong support for the monophyly (sensu Hennig) of Archaea. The valyl-tRNA synthetase gene from Tr. vaginalis clustered with other eukaryotic ValRS genes, which may have been transferred from the mitochondrial genome to the nuclear genome, suggesting that this amitochondrial trichomonad once harbored an endosymbiotic bacterium.
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Senescence-associated coordination in amounts of enzymes localized in different cellular compartments were determined in attached leaves of young wheat (Triticum aestivum L. cv. Arina) plants. Senescence was initiated at the time of full leaf elongation based on declines in total RNA and soluble protein. Removal of N from the growth medium just at the time of full leaf elongation enhanced the rate of senescence. Sustained declines in the amount of ribulose-1,5-bisphosphate carboxylase/oxygenase (Rubisco, EC 4.1.1.39), and a marked decrease in the rbcS transcripts, just after full leaf elongation indicated that Rubisco synthesis/degradation was very sensitive to the onset of senescence. Rubisco activase amount also declined during senescence but the proportion of rca transcript relative to the total poly A RNA pool increased 3-fold during senescence. Thus, continued synthesis of activase may be required to maintain functional Rubisco throughout senescence. N stress led to declines in the amount of proteins located in the chloroplast, the peroxisome and the cytosol. Transcripts of the Clp protease subunits also declined in response to N stress, indicating that Clp is not a senescence-specific protease. In contrast to the other proteins, mitochondrial NADH-glutamate dehydrogenase (EC 1.4.1.2) was relatively stable during senescence and was not affected by N stress. During natural senescence with adequate plant nitrate supply the amount of nitrite reductase (EC 1.7.7.1) increased, and those of glutamine synthetase (EC 1.4.7.1) and glutamate synthase (EC 6.3.1.2) were stable. These results indicated that N assimilatory capacity can continue or even increase during senescence if the substrate supply is maintained. Differential stabilities of proteins, even within the same cellular compartment, indicate that proteolytic activity during senescence must be highly regulated.
Resumo:
This cross-sectional study investigated the prevalence of anaemia and vitamin A deficiency (VAD) among pregnant women in a poor urban population of Bangladesh. It also examined the association of various socio-economic and dietary factors with anaemia and vitamin A status. A maternal and child health clinic in Dhaka city, Bangladesh was used to obtain the sample. Three hundred and eighty three pregnant women, aged 20-30 years, of 20-30 weeks gestation were randomly selected from women on their first presentation for antenatal care. Socio-economic, pregnancy related information, usual dietary pattern, and anthropometric data were collected. Blood haemoglobin and serum retinol (vitamin A) concentrations were determined. About 40% of the pregnant women were anaemic (haemoglobin <11.0 g/dl) and 45% had low serum vitamin A levels (<30 mug/dl); with 8.6% having sub-clinical VAD (serum retinol <20 μg/dl). The women with low serum vitamin A levels had 1.8 times greater risk of being anaemic than did the women with normal vitamin A status. Food frequency data revealed that a large proportion of these women did not consume egg (49%), milk (25%), meat (31%), liver (83%), large fish (32%), small fish (39%) and sweet pumpkin (52%) at all; while about 25% of the women reported consuming dark green leafy vegetables (DGLV) and 64% reported an intake of fruit at least four servings a week. The pregnant women who were either illiterate or received only informal education (up to grade ten) had significantly lower haemoglobin and serum vitamin A levels compared to those who completed at least a secondary school certificate. The women whose husbands were illiterate or received only informal education had significantly (P=0.01) lower serum vitamin A levels than those whose husbands had received at least a secondary school certificate. The women who came from families with a per-capita income below the poverty line had significantly lower haemoglobin and serum vitamin A levels compared to those who came from families with a per-capita income above the poverty line. The women who consumed three servings or less of DGLV and fruit per week had significantly lower haemoglobin and serum vitamin A levels than those who consumed four or more servings a week. The women who never consumed large fish had significantly lower haemoglobin compared to those who reported at least one serving a week. Furthermore, the women who never consumed sweet pumpkin had significantly lower serum vitamin A than the women who ate at least one serving a week. By multiple regression analysis, intake of meat, DGLV and fruit, and serum vitamin A levels were found to have a significant independent relationship with haemoglobin. The overall F-ratio (9.9) was highly significant (P=0.000), the adjusted R-square was 0.086 (multiple R=0.309). Multiple regression analysis for serum vitamin A also revealed a significant independent relationship with per capita income, haemoglobin levels, intakes of DGLV and sweet pumpkin. The overall F-ratio (10.2) was highly significant (P=0.000), the adjusted R-square was 0.10 (multiple R=0.312). In conclusion, anaemia and vitamin A deficiency were highly prevalent among poor urban pregnant women in Bangladesh. Various socio-economic and dietary factors may influence the anaemia and vitamin A status of these women. The present study emphasizes the need for a comprehensive intervention strategy, which include both nutritional and environmental factors, to improve the nutritional status of this population.
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There is growing evidence that Vitamin D-3 (1,25-dihydroxyvitamin D-3) is involved in brain development. We have recently shown that the brains of newborn rats from Vitamin D-3 deficient dams were larger than controls, had increased cell proliferation, larger lateral ventricles, and reduced cortical thickness. Brains from these animals also had reduced expression of nerve growth factor (NGF) and glial cell line-derived neurotrophic factor. The aim of the current study was to examine if there were any permanent outcomes into adulthood when the offspring of Vitamin D-3 deficient dams were restored to a normal diet. The brains of adult rats were examined at 10 weeks of age after Vitamin D-3 deficiency until birth or weaning. Compared to controls animals that were exposed to transient early Vitamin D-3 deficiency had larger lateral ventricles, reduced NGF protein content, and reduced expression of a number genes involved in neuronal structure, i.e. neurofilament or MAP-2 or neurotransmission, i.e. GABA-(alpha 4). We conclude that transient early life hypovitaminosis D-3 not only disrupts brain development but leads to persistent changes in the adult brain. In light of the high incidence of hypovitammosis D-3 in women of child-bearing age, the public health implications of these findings warrant attention. (c) 2005 Elsevier Inc. All rights reserved.
Resumo:
A rendszerváltás utáni időszak gazdasági teljesítményei a beteljesült remények és a megvalósulatlan várakozások egymást követő hullámzásait takarják. A mögöttünk hagyott két évtized első felét a gazdasági szerkezetváltás, a piaci kapcsolatok módosulása, valamint új – többségében külföldi – befektetői csoportok megjelenése jellemezte, amelyek együttes hozadéka volt a gazdaság stabilizálódása, majd az új növekedési pályára állás. Az ezredfordulót követő évtized első felére azonban a külföldi befektetésekre alapozott gazdaságfejlesztési stratégia erejét vesztette, s a helyettesítésre szánt hazai kkv-szektor – a kiemelt támogatások és a kedvezmények ellenére – nem tudott a növekedés motorjává válni. Szerzőnk – a BCE tudományos kutatója és az APEH korábbi elnöke – a versenyszektor 2000–2008. évi pénzügyi beszámolói alapján a hazai vállalkozások demográfiai, teljesítményi és eredményességi jellemzőit vizsgálja, s két részből álló tanulmányában arra keresi a választ, hogy a várakozásoktól elmaradó működési eredményekben milyen szerepe lehet a gazdaságfejlesztési stratégia hiányának, a vállalkozási teljesítmények elégtelenségének, a tőkehiánynak, illetve a pénzügyi rendszer torzulásainak. Szerkesztőségünk a tanulmányt olyan vitaindítónak tekinti, ami széles érdeklődésre tarthat számot, s szívesen vállalkozunk arra, hogy közreadunk minden jobbító szándékú gondolatot. _______ The economic performance during the transition period was characterized by the alternations of fulfilled hopes and unrealized expectations. The economic restructuring and changes in market relations took place during the first decade, while new – mostly foreign – investment groups entered on the new market. As a result the economy was stabilized and was put to a new growth path. But after the millennium the foreign investment based economy development strategy was no more adequate. The new engine for the growth should have been the domestic small and medium enterprise sector (SME), but despite the subsidies this sector was not strengthened to take this role. The author – the researcher of BCE, and the ex-president of APEH – analyses the characteristics of the domestic business demography, performance and effectiveness, based on the 2000–2008 annual financial statements of the business sector. The two-part study seeks the reason for the disappointing operation results. What role take in this phenomena the absence of economic strategy, the deficiency of business performance, the lack of capital and the financial distortions of the system. Our editorial intend this study as a debate for the public, and we would publish the ideas which improves this relevant topic.
Resumo:
INTRODUCTION: Low circulating levels of placenta growth factor (PlGF) is strongly associated with the onset of preeclampsia, a maternal hypertensive disorder characterized by high blood pressure and proteinuria after 20 weeks of gestation. Although, PlGF-deficient mice are born healthy and fertile at a Mendelian ratio, the physiological importance of PlGF in the pathogenesis of preeclampsia is unclear. We hypothesised that decreased levels of PlGF in pregnancy exacerbates the fetal growth restriction associated with preeclampsia in the presence of high sFlt-1. METHODS: Pregnant PlGF-/- mice were injected with adenovirus encoding sFlt-1 (Ad-sFlt-1) at high (i) 1.5x109 pfu/ml and low (ii) 0.5x109 pfu/ml doses. Mean arterial blood pressure (MBP), biochemical and histological assessments of maternal kidney, placenta and embryos were performed. RESULTS: Ad-sFlt-1 significantly increased MBP and induced severe glomerular endotheliosis in PlGF-/- mice at E10.5 gestation compared to wild-type animals. High sFlt-1 also significantly elevated albumincreatinine ratio and increased levels of urinary kidney injury molecule-1, a marker for proximal tubule injury.At a high dose of sFlt-1, there was complete fetal resorption in the pregnant PlGF-/- mice, and even the lower dose of sFlt-1 induced severe fetal resorption and abnormal placental vascularization. Hydrogen sulphide-releasing agent, GYY4137, significantly reduced resorption, hypertension and proteinuria in Ad-sFlt-1 treated pregnant PlGF-/- mice. To determine if placental PlGF is critical for preventing fetal growth restriction associated with preeclampsia, we generated haploinsufficient PlGF+/- placentas and embryos were generated in wild-time dams and exposed to high sFlt-1 environment. This resulted in reduced fetal resorption, gestational hypertension and proteinuria when compared to pregnant PlGF-/- mice. CONCLUSIONS: Placental PlGF is a critical protective factor against the damaging effects of high sFlt-1 in preeclampsia and the hydrogen sulphide pathway may rescue preeclampsia phenotypes.
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Introduction: Vitamin D deficiency during pregnancy is a public health problem and it has been associated with negative pregnancy outcomes for both mothers and infants. Aim: To estimate the prevalence of vitamin D deficiency in pregnant women in the United Arab Emirates (UAE) and to identify the contribution of risk factors to the 25(OH)D levels. Methods: It is a cross-sectional study in which vitamin D levels of 1088 adult pregnant women were assessed. Information on vitamin D intake was available in a sub-sample of 266 women. Results: The mean serum 25(OH)D was 26.2 nmol/L (95% CI 25.2-27.1 range 5-129.1 nmol/L) with 69% of women being vitamin D deficient (<30 nmol/L). In the bivariate analysis, showed that no predictors could have been indicated as no values exceeded significance (p<0.2). Stepwise multiple linear regression analysis could not be applied to identify predictors of vitamin D levels as no values exceeded p=0.2. Conclusion: Due to the high prevalence of vitamin deficiency in UAE, there is an urge for interventions focusing on supplementation, fortification and diet diversity for preventing health consequences during a critical period of development.
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Background: Hereditary Tyrosinemia type I (HTI) is a metabolic disease caused by deficiency of fumarylacetoacetate hydrolase enzyme. Objectives: This study reports beside its clinical and biochemical presentation, the outcome of NTBC [2- (2-nitro-4-trifloro-methylbenzoyl)-1, 3-cyclohexanedion] treatment of the disease and evaluates its biochemical markers in 16 pediatric Libyan patients. Patients and Methods: The diagnosis was based on presence of high tyrosine levels in blood and succinylacetone in urine. Results: The consanguinity rate was 81.2%, the median age at onset, at diagnosis and at starting treatment were 4.5, 8, and 9.5 months respectively. At presentation hepatomegaly, jaundice, rickets and high gamma glutamyl transferase (GGT) were observed in 87.5% of patients. All patients had extremely high alpha fetoprotein (AFP) and high alkaline phosphatase (ALP) levels. Fifteen patients were treated with NTBC, normalization of PT (Prothrombine time) was achieved in average in 14 days. The other biochemical parameters of liver function (transaminases, GGT, ALP, bilirubin and albumin) took longer to improve and several months to be normalized. Survival rate with NTBC was 86.6%. Patients who started treatment in a median of 3 months post onset observed a fast drop of AFP in 90.6% of patients (P = 0.003). Abnormal liver function and rickets were the common presentations, GGT was an early cholestatic sensitive test. ALP was constantly high even in asymptomatic patients. Conclusions: In HT1 a faster dropping of AFP is a marker of good prognosis.
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BACKGROUND: The WNT10A protein is critical for the development of ectodermal appendages. Variants in the WNT10A gene may be associated with a spectrum of ectodermal abnormalities including extensive tooth agenesis. METHODS: In seven patients with severe tooth agenesis we identified anomalies in primary dentition and additional ectodermal symptoms, and assessed WNT10A mutations by genetic analysis. RESULTS: Investigation of primary dentition revealed peg-shaped crowns of primary mandibular incisors and three individuals had agenesis of at least two primary teeth. The permanent dentition was severely affected in all individuals with a mean of 21 missing teeth. Primary teeth were most often present in positions were succedaneous teeth were missing. Furthermore, most existing molars had taurodontism. Light, brittle or coarse hair was reported in all seven individuals, hyperhidrosis of palms and soles in six individuals and nail anomalies in two individuals. The anomalies in primary dentition preceded most of the additional ectodermal symptoms. Genetic analysis revealed that all seven individuals were homozygous or compound heterozygous for WNT10A mutations resulting in C107X, E222X and F228I. CONCLUSIONS: We conclude that tooth agenesis and/or peg-shaped crowns of primary mandibular incisors, severe oligodontia of permanent dentition as well as ectodermal symptoms of varying severity may be predictors of bi-allelic WNT10A mutations of importance for diagnosis, counselling and follow-up.