Abstract: Wilson’s disease (WD) is an autosomal recessive disorder of the copper metabolism, which is caused by a mutation in the copper-transporting P-type ATPase (ATP7B). The mechanism of this disease is the failure of hepatic excretion of copper to bile, and leads to copper deposits in the liver and other organs. The ATP7B gene is located on the long arm of chromosome 13 (13q14.3). This study aimed to investigate the gene mutation in the Vietnamese patients with WD, and make a presymptomatic diagnosis for their familial members. Forty-three WD patients and their 65 siblings were identified as having ATP7B gene mutations. Genomic DNA was extracted from peripheral blood samples; 21 exons and exon-intron boundaries of the ATP7B gene were analyzed by direct sequencing. We recognized four mutations ([R723=; H724Tfs*34], V1042Cfs*79, D1027H, and IVS6+3A>G) in the sum of 20 detectable mutations, accounting for 87.2% of the total. Mutation S105* was determined to have a high rate (32.6%) in this study. The hotspot regions of ATP7B were found at exons 2, 16, and 8, and intron 14, in 39.6 %, 11.6 %, 9.3%, and 7 % of patients, respectively. Among nine homozygote/compound heterozygote siblings of the patients with WD, three individuals were determined as asymptomatic by screening mutations of the probands. They would begin treatment after diagnosis. In conclusion, 20 different mutations were detected in 43 WD patients. Of this number, four novel mutations were explored, including [R723=; H724Tfs*34], V1042Cfs*79, D1027H, and IVS6+3A>G. The mutation S105* is the most prevalent and has been considered as a biomarker that can be used in a rapid detection assay for diagnosis of WD patients. Exons 2, 8, and 16, and intron 14 should be screened initially for WD patients in Vietnam. Based on risk profile for WD, genetic testing for presymptomatic patients is also useful in diagnosis and treatment.
Abstract: In vitro storage and processing of animal semen represents a risk factor to spermatozoa vitality, potentially leading to reduced fertility. A variety of substances isolated from natural sources may exhibit protective or antioxidant properties on the spermatozoon, thus extending the lifespan of stored ejaculates. This study compared the ability of different concentrations of the Salvia officinalis extract on the motility, mitochondrial activity, viability and reactive oxygen species (ROS) production by bovine spermatozoa during different time periods (0, 2, 6 and 24 h) of in vitro culture. Spermatozoa motility was assessed using the Computer-assisted sperm analysis (CASA) system. Cell viability was examined using the metabolic activity MTT assay, the eosin-nigrosin staining technique was used to evaluate the sperm viability and ROS generation was quantified using luminometry. The CASA analysis revealed that the motility in the experimental groups supplemented with 0.5-2 µg/mL Salvia extract was significantly lower in comparison with the control (P
Abstract: The aim of the study was to map scientific research on adrenal gland diseases in the Middle East countries through the Web of Science database using scientometric analysis. Data were analyzed with Excel software; and HistCite was used for mapping of the scientific texts. In this study, from a total of 268 retrieved records, 1125 authors from 328 institutions published their texts in 138 journals. Among 17 Middle East countries, Turkey ranked first with 164 documents (61.19%), Israel ranked second with 47 documents (15.53%) and Iran came in the third place with 26 documents. Most of the publications (185 documents, 69.2%) were articles. Among the universities of the Middle East, Istanbul University had the highest science production rate (9.7%). The Journal of Clinical Endocrinology & Metabolism had the highest TGCS (243 citations). In the scientific mapping, 7 clusters were formed based on TLCS (Total Local Citation Score) & TGCS (Total Global Citation Score). considering the study results, establishment of scientific connections and collaboration with other countries and use of publications on adrenal gland diseases from high ranking universities can help in the development of this field and promote the medical practice in this regard. Moreover, investigation of the formed clusters in relation to Congenital Hyperplasia and puberty related disorders can be research priorities for investigators.
Abstract: This study aims to evaluate the diversity of microorganisms in filters PM2.5 and PM10; and determine the genotoxic and cytotoxic activity of the complex mixture present in PM2.5 filters used in the Aburrá Valley Air Quality Monitoring Network (Colombia). The research results indicate that particulate matter PM2.5 of different monitoring stations are bacteria; however, this study of detection of bacteria and their phylogenetic relationship is not complete evidence to connect the microorganisms with pathogenic or degrading activities of compounds present in the air. Additionally, it was demonstrated the damage induced by the particulate material in the cell membrane, lysosomal and endosomal membrane and in the mitochondrial metabolism; this damage was independent of the PM2.5 concentrations in almost all the cases.
Abstract: Zymomonas mobilis is known as an example of the
uncoupled growth phenomenon. This microorganism also has a
unique metabolism that degrades glucose by the Entner–Doudoroff
(ED) pathway. In this paper, a genome-scale metabolic model
including 434 genes, 757 reactions and 691 metabolites was
reconstructed to simulate uncoupled growth and study its effect on
flux distribution in the central metabolism. The model properly
predicted that ATPase was activated in experimental growth yields of
Z. mobilis. Flux distribution obtained from model indicates that the
major carbon flux passed through ED pathway that resulted in the
production of ethanol. Small amounts of carbon source were entered
into pentose phosphate pathway and TCA cycle to produce biomass
precursors. Predicted flux distribution was in good agreement with
experimental data. The model results also indicated that Z. mobilis
metabolism is able to produce biomass with maximum growth yield
of 123.7 g (mol glucose)-1 if ATP synthase is coupled with growth
and produces 82 mmol ATP gDCW-1h-1. Coupling the growth and
energy reduced ethanol secretion and changed the flux distribution to
produce biomass precursors.
Abstract: Soil enzyme activities in Kasuga-yama Hill Primeval Forest (Nara, Japan) were examined to determine levels of mineralization and metabolism. Samples were selected from the soil surrounding laurel-leaved (BB-1) and Carpinus japonica (BB-2 and Pw) trees for analysis. Cellulase, β-xylosidase, and protease activities were higher in BB-1 samples those in BB-2 samples. These activity levels corresponded to the distribution of cellulose and hemicellulose in the soil horizons. Cellulase, β-xylosidase, and chymotrypsin activities were higher in soil from the Pw forest than in that from the BB-2 forest. The relationships between the soil enzymes calculated by Spearman’s rank correlation indicate that the interactions between enzymes in BB-2 samples were more complex than those in Pw samples.
Abstract: The myocardium is composed of specialized muscle
which relies mainly on fatty acid and sugar metabolism and it is
widely contribute to the heart functioning. The changes of the cardiac
energy-producing system during heart failure have been proved using
autoradiography techniques. This study focused on evaluating sugar
and fatty acid metabolism in myocardium as cardiac energy getting
system using heart-accumulated radiopharmaceuticals. Two sets of
autoradiographs of heart cross sections of Lewis male rats were
analyzed and the time- accumulation curve obtained with use of the
MATLAB image processing software to evaluate fatty acid and sugar
metabolic functions.
Abstract: The aim of the study was to investigate the effect of
Saccharomyces cerevisiae (SC) live yeast culture on microbial
protein supply to small intestine in Kivircik male yearlings when fed
with different ratio of forage and concentrate diets. Four Kivircik
male yearlings with permanent rumen canula were used in the
experiment. The treatments were allocated to a 4x4 Latin square
design. Diet I consisted of 70% alfalfa hay and 30% concentrate, Diet
II consisted of 30% alfalfa hay and 70% concentrate, Diet I and II
were supplemented with a SC. Daily urine was collected and stored at
-20°C until analysis. Calorimetric methods were used for the
determination of urinary allantoin and creatinine levels. The
estimated microbial N supply to small intestine for Diets I, I+SC, II
and II+SC were 2.51, 2.64, 2.95 and 3.43 g N/d respectively.
Supplementation of Diets I and II with SC significantly affected the
allantoin levels in μmol/W0.75 (p
Abstract: In order to investigate the prebiotic potential of
oligosaccharides prepared by chemical hydrolysis of water-soluble
polysaccharides (WSP) from Zizyphus lotus leaves, the effect of
oligosaccharides on bacterial growth was studied. The chemical
composition of WSP was evaluated by colorimetric assays revealed
the average values: 7.05±0.73% proteins and 86.21±0.74%
carbohydrates, among them 64.81±0.42% is neutral sugar and the rest
16.25±1.62% is uronic acids. The characterization of
monosaccharides was determined by high performance anion
exchange chromatography with pulsed amperometric detection
(HPAEC-PAD) was found to be composed of galactose (23.95%),
glucose (21.30%), rhamnose (20.28%), arabinose (9.55%), and
glucuronic acid (22.95%). The effects of oligosaccharides on the
growth of lactic acid bacteria were compared with those of fructooligosaccharide
(RP95). The oligosaccharides concentration was
1g/L of Man, Rogosa, Sharpe broth. Bacterial growth was assessed
during 2, 4.5, 6.5, 9, 12, 16 and 24 h by measuring the optical density
of the cultures at 600 nm (OD600) and pH values. During
fermentation, pH in broth cultures decreased from 6.7 to 5.87±0.15.
The enumeration of lactic acid bacteria indicated that
oligosaccharides led to a significant increase in bacteria (P≤0.05)
compared to the control. The fermentative metabolism appeared to be
faster on RP95 than on oligosaccharides from Zizyphus lotus leaves.
Both RP95 and oligosaccharides showed clear prebiotic effects, but
had differences in fermentation kinetics because of to the different
degree of polymerization. This study shows the prebiotic
effectiveness of oligosaccharides, and provides proof for the selection
of leaves of Zizyphus lotus for use as functional food ingredients.
Abstract: Polycyclic Aromatic Hydrocarbons (PAHs) are
formed mainly because of incomplete combustion of organic
materials during industrial, domestic activities or natural occurrence.
Their toxicity and contamination of terrestrial and aquatic ecosystem
have been established. However, with limited validity index, previous
research has focused on PAHs isomer pair ratios of variable
physicochemical properties in source identification. The objective of
this investigation was to determine the empirical validity of Pearson
Correlation Coefficient (PCC) and Cluster Analysis (CA) in PAHs
source identification along soil samples of different land uses.
Therefore, 16 PAHs grouped, as Endocrine Disruption Substances
(EDSs) were determined in 10 sample stations in top and sub soils
seasonally. PAHs was determined the use of Varian 300 gas
chromatograph interfaced with flame ionization detector. Instruments
and reagents used are of standard and chromatographic grades
respectively. PCC and CA results showed that the classification of
PAHs along pyrolitic and petrogenic organics used in source
signature is about the predominance PAHs in environmental matrix.
Therefore, the distribution of PAHs in the studied stations revealed
the presence of trace quantities of the vast majority of the sixteen
PAHs, which may ultimately inhabit the actual source signature
authentication. Therefore, factors to be considered when evaluating
possible sources of PAHs could be; type and extent of bacterial
metabolism, transformation products/substrates, and environmental
factors such as salinity, pH, oxygen concentration, nutrients, light
intensity, temperature, co-substrates, and environmental medium are
hereby recommended as factors to be considered when evaluating
possible sources of PAHs.
Abstract: Obesity and osteoporosis are the two diseases whose
increasing prevalence and high impact on the global morbidity and
mortality, during the two recent decades, have gained a status of
major health threats worldwide. Obesity purports to affect the bone
metabolism through complex mechanisms. Debated data on the
connection between the bone mineral density and fracture prevalence
in the obese patients are widely presented in literature. There is
evidence that the correlation of weight and fracture risk is sitespecific.
This study is aimed at determining the connection between
the bone mineral density (BMD) and trabecular bone score (TBS)
parameters in Ukrainian women suffering from obesity. We
examined 1025 40-89-year-old women, divided them into the groups
according to their body mass index: Group A included 360 women
with obesity whose BMI was ≥30 kg/m2, and Group B – 665 women
with no obesity and BMI of
Abstract: In review the generalized data about biosynthetic routs
formation anthraquinone molecules in natural cells. The basic
possibilities of various ways of biosynthesis of different quinoid
substances are shown.
Abstract: Array-based gene expression analysis is a powerful
tool to profile expression of genes and to generate information on
therapeutic effects of new anti-cancer compounds. Anti-apoptotic
effect of thymoquinone was studied in MCF7 breast cancer cell line
using gene expression profiling with cDNA microarray. The purity
and yield of RNA samples were determined using RNeasyPlus Mini
kit. The Agilent RNA 6000 NanoLabChip kit evaluated the quantity
of the RNA samples. AffinityScript RT oligo-dT promoter primer
was used to generate cDNA strands. T7 RNA polymerase was used to
convert cDNA to cRNA. The cRNA samples and human universal
reference RNA were labelled with Cy-3-CTP and Cy-5-CTP,
respectively. Feature Extraction and GeneSpring softwares analysed
the data. The single experiment analysis revealed involvement of 64
pathways with up-regulated genes and 78 pathways with downregulated
genes. The MAPK and p38-MAPK pathways were
inhibited due to the up-regulation of PTPRR gene. The inhibition of
p38-MAPK suggested up-regulation of TGF-ß pathway. Inhibition of
p38-MAPK caused up-regulation of TP53 and down-regulation of
Bcl2 genes indicating involvement of intrinsic apoptotic pathway.
Down-regulation of CARD16 gene as an adaptor molecule regulated
CASP1 and suggested necrosis-like programmed cell death and
involvement of caspase in apoptosis. Furthermore, down-regulation
of GPCR, EGF-EGFR signalling pathways suggested reduction of
ER. Involvement of AhR pathway which control cytochrome P450
and glucuronidation pathways showed metabolism of Thymoquinone.
The findings showed differential expression of several genes in
apoptosis pathways with thymoquinone treatment in estrogen
receptor-positive breast cancer cells.
Abstract: We assessed the ecology of the organic and mineral soil
layers of laurel-leaved (BB-1) and Cryptomeria japonica (BB-2 and Pw)
forests in the Kasugayama Hill Primeval Forest (Nara, Japan). The soil
respiration rate was higher in the deeper horizons (F and H) of organic
layers than in those of mineral soil layers, suggesting organic layers
may be where active microbial metabolism occurs. Respiration rates in
the soil of BB-1, BB-2 and Pw forests were closely similar at 5 and 10°C.
However, the soil respiration rate increased in proportion to
temperatures of 15°C or above. We therefore consider the activity of
soil microorganisms to markedly decrease at temperatures below 10°C.
At a temperature of 15°C or above, the soil respiration rate in the BB-1
organic layers was higher than in those of the BB-2 and Pw organic
layers, due to differences in forest vegetation that appeared to
influence several salient soil properties, particularly pH and the carbon
(C) and nitrogen (N) content of the F and H horizons.
Abstract: The thyroid gland is the largest classic endocrine
organ that effects many organs of the body and plays a significant
role in the process of Metabolism in animals. The aim of this study
was to investigate the prevalence of thyroid disorders diagnosed by
ultrasound and microscopic Lesions of the thyroid during the
slaughter of apparently healthy One Humped Camels (Camelus
dromedarius) in Iran. Randomly, 520 male camels (With an age
range of 4 to 8 years), were studied in 2012 to 2013. The Camels’
thyroid glands were evaluated by sonographic examination. In both
longitudinal and transverse view and then tissue sections were
provide and stained with H & E and finally examined by light
microscopy. The results obtained indicated the following:
hyperplastic goiter (21%), degenerative changes (12%), follicular
cysts (8%), follicular atrophy (4%), nodular hyperplasia (3%),
adenoma (1%), carcinoma (1%) and simple goiter colloid (1%).
Ultrasound evaluation of thyroid gland in adenoma and carcinoma
showed enlargement and irregular of the gland, decreased
echogenicity, and the heterogeneous thyroid parenchyma. Also, in
follicular cysts were observed in the enlarged gland with no echo
structures of different sizes and decreased echogenicity as a local or
general. In nodular hyperplasia, increase echogenicity and
heterogeneous parenchymal were seen. These findings suggest the
use of sonography and pathology as a screening test in the diagnosis
of complications of thyroid disorders.
Abstract: The presence of endocrine-disrupting compounds,
such as bisphenol A (BPA), in the environment can cause serious
health problems. However, there are controversial opinions. This
study investigated the reproductive, metabolic, oxidative and
immunologic-disrupting effects of bisphenol A in male rabbits.
Rabbits were divided into five groups. The first four rabbit groups
were administered oral BPA (1, 10, 50, or 100 mg/kg/day) for ten
weeks. The fifth group was administered corn oil as the vehicle. BPA
significantly decreased serum testosterone, estradiol and the free
androgen index (FAI) and significantly increased sex hormone
binding globulin (SHBG) compared with the placebo group. The
higher doses of BPA showed a significant decrease in follicular
stimulating hormone (FSH) and luteinizing hormone (LH). A
significant increase in blood glucose levels was identified in the BPA
groups. The non-significant difference in insulin levels is a novel
finding. The cumulative testicular toxicity of BPA was clearly
demonstrated by the dose-dependent decrease in absolute testes
weight, primary measures of semen quality and a significant increase
in testicular malonaldehyde (MDA). Moreover, BPA significantly
decreased total antioxidant capacity (TAC) and significantly
increased immunoglobulin G (IgG) at the highest concentration. Our
results suggest that BPA, especially at higher doses, is associated
with many adverse effects on metabolism, oxidative stress, immunity,
sperm quality and markers of androgenic action.
Abstract: The aim of this study is to determine the effect of age
and physiological status on progesterone and energy metabolism of
Ouled Djellal (O.D) breed ewes. 40 healthy ewes were divided into
two groups, primiparous and multiparous, with 20 ewes in each
group. The body weights (BW) (Kg) were 46.6 ± 4.20 and 59.2 ±
3.02, and consuming less 25 to 30% of their basal energetic
requirements. The values of serum glucose, triglycerides and
cholesterol were lower in pregnant than in non-pregnant ewes. The
high to very high significant differences were found during the 15th
week of pregnancy for glycaemia and triglyceridemia respectively.
Concerning serum progesterone, a very highly significant difference
(p
Abstract: In this paper, we employ a directed hypergraph model
to investigate the extent to which environmental variability influences
the set of available biochemical reactions within a living cell.
Such an approach avoids the limitations of the usual complex
network formalism by allowing for the multilateral relationships (i.e.
connections involving more than two nodes) that naturally occur
within many biological processes. More specifically, we extend the
concept of network reciprocity to complex hyper-networks, thus
enabling us to characterise a network in terms of the existence
of mutual hyper-connections, which may be considered a proxy
for metabolic network complexity. To demonstrate these ideas, we
study 115 metabolic hyper-networks of bacteria, each of which
can be classified into one of 6 increasingly varied habitats.
In particular, we found that reciprocity increases significantly
with increased environmental variability, supporting the view that
organism adaptability leads to increased complexities in the resultant
biochemical networks.
Abstract: Aldehyde oxidase is molybdo-flavoenzyme involved in the oxidation of hundreds of endogenous and exogenous and N-heterocyclic compounds and environmental pollutants. Uncharged N-heterocyclic aromatic compounds such phenanthridine are commonly distributed pollutants in soil, air, sediments, surface water and groundwater, and in animal and plant tissues. Phenanthridine as uncharged N-heterocyclic aromatic compound was incubated with partially purified aldehyde oxidase from rainbow trout fish liver. Reversed-phase HLPC method was used to separate the oxidation products from phenanthridine and the metabolite was identified. The 6(5H)-phenanthridinone was identified the major metabolite by partially purified aldehyde oxidase from fish liver. Kinetic constant for the oxidation reactions were determined spectrophotometrically and showed that this substrate has a good affinity (Km = 78 ± 7.6µM) for hepatic aldehyde oxidase, will be a significant pathway. This study confirms that partially purified aldehyde oxidase from fish liver is indeed the enzyme responsible for the in vitro production 6(5H)-phenanthridinone metabolite as it is a major metabolite by mammalian aldehyde oxidase, coupled with a relatively high oxidation rate (0.77± 0.03 nmol/min/mg protein). In addition, the kinetic parameters of hepatic fish aldehyde oxidase towards the phenanthridine substrate indicate that in vitro biotransformation by hepatic fish aldehyde oxidase will be a significant pathway. This study confirms that partially purified aldehyde oxidase from fish liver is indeed the enzyme responsible for the in vitro production 6(5H)-phenanthridinone metabolite as it is a major metabolite by mammalian aldehyde oxidase.
Abstract: PPARs function as regulators of lipid and lipoprotein metabolism. The aim of the study was to compare the lipid profile between two phases of fasting and to examine the frequency and relationship of peroxisome proliferator-activated receptor, PPARα gene polymorphisms to lipid profile in fasting respondents. We conducted a case-control study protocol, which included 21 healthy volunteers without gender discrimination at the age of 18 years old. 3 ml of blood sample was drawn before the fasting phase and during the fasting phase (in Ramadhan month). 1ml of serum for the lipid profile was analyzed by using the automated chemistry analyser (Olympus, AU 400) and the data were analysed using the Paired T-Test (SPSS ver.20). DNA was extracted and PCR was conducted utilising 6 sets of primer. Primers were designed within 6 exons of interest in PPARα gene. Genetic and metabolic characteristics of fasting respondents and controls were estimated and compared. Fasting respondents were significantly have lowered the LDL levels (p=0.03). There were no polymorphisms detected except in exon 1 with 5% of this population study respectively. The polymorphisms in exon 1 of the PPARα gene were found in low frequency. Regarding the 1375G/T and 1386G/T polymorphisms in the exon 1 of the PPARα gene, the T-allele in fasting phase had no association with the decreased LDL levels (Fisher Exact Test). However this association is more promising when the sample size is larger in order to elucidate the precise impact of the polymorphisms on lipid profile in the population. In conclusion, the PPARα gene polymorphisms do not appear to affect the LDL of fasting respondents.