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1.
Article in Chinese | WPRIM | ID: wpr-879881

ABSTRACT

OBJECTIVE@#To analyze the screening results of glucose-6-phosphate dehydrogenase (G6PD) deficiency and gene mutation distribution of G6PD deficiency in preterm infants in Chengdu, China, in order to provide a basis for the improvement of G6PD screening process in preterm infants.@*METHODS@#Fluorescent spot test for G6PD deficiency using dried blood spots was used for G6PD screening of 54 025 preterm infants born from January 1, 2015 to December 31, 2019 in Chengdu, and G6PD enzymology and gene detection were used for the diagnosis of 213 infants with positive screening results.@*RESULTS@#Among the 54 025 preterm infants, 192 were diagnosed with G6PD deficiency, with an incidence rate of 3.55‰. The incidence rate of G6PD deficiency in preterm infants was higher than that in full-term infants in the same period of time and tended to increase year by year. Birth in summer, gestational age T mutation tend to have mild conditions.


Subject(s)
China/epidemiology , Female , Genetic Testing , Glucosephosphate Dehydrogenase/genetics , Glucosephosphate Dehydrogenase Deficiency/genetics , Humans , Infant , Infant, Newborn , Infant, Premature , Mutation
2.
Article in English | WPRIM | ID: wpr-922197

ABSTRACT

BACKGROUND@#Exposure to the ionizing radiation (IR) encountered outside the magnetic field of the Earth poses a persistent threat to the reproductive functions of astronauts. The potential effects of space IR on the circadian rhythms of male reproductive functions have not been well characterized so far.@*METHODS@#Here, we investigated the circadian effects of IR exposure (3 Gy X-rays) on reproductive functional markers in mouse testicular tissue and epididymis at regular intervals over a 24-h day. For each animal, epididymis was tested for sperm motility, and the testis tissue was used for daily sperm production (DSP), testosterone levels, and activities of testicular enzymes (glucose-6-phosphate dehydrogenase (G6PDH), sorbitol dehydrogenase (SDH), lactic dehydrogenase (LDH), and acid phosphatase (ACP)), and the clock genes mRNA expression such as Clock, Bmal1, Ror-α, Ror-β, or Ror-γ.@*RESULTS@#Mice exposed to IR exhibited a disruption in circadian rhythms of reproductive markers, as indicated by decreased sperm motility, increased daily sperm production (DSP), and reduced activities of testis enzymes such as G6PDH, SDH, LDH, and ACP. Moreover, IR exposure also decreased mRNA expression of five clock genes (Clock, Bmal1, Ror-α, Ror-β, or Ror-γ) in testis, with alteration in the rhythm parameters.@*CONCLUSION@#These findings suggested potential health effects of IR exposure on reproductive functions of male astronauts, in terms of both the daily overall level as well as the circadian rhythmicity.


Subject(s)
ARNTL Transcription Factors/genetics , Acid Phosphatase , Animals , CLOCK Proteins/genetics , Circadian Rhythm/radiation effects , Epididymis/radiation effects , Gene Expression/radiation effects , Genitalia, Male/radiation effects , Glucosephosphate Dehydrogenase , L-Iditol 2-Dehydrogenase , L-Lactate Dehydrogenase , Male , Mice , Mice, Inbred C57BL , Models, Animal , Nuclear Receptor Subfamily 1, Group F, Member 1/genetics , Nuclear Receptor Subfamily 1, Group F, Member 2/genetics , Nuclear Receptor Subfamily 1, Group F, Member 3/genetics , RNA, Messenger/genetics , Radiation Exposure , Radiation, Ionizing , Reproductive Physiological Phenomena/radiation effects , Sperm Motility/radiation effects , Spermatozoa/radiation effects , Testis/radiation effects
3.
Article in Chinese | WPRIM | ID: wpr-827172

ABSTRACT

OBJECTIVE@#To study the gene mutants of G6PD deficiency and their clinical featuers among children in Luzhou area.@*METHODS@#732 children with suspected G6PD deficiency in Luzhou area from March 2017 to July 2019 were selected, which were examined for G6PD enzyme activity and gene mutation. The G6PD enzyme activity was detected by ultraviolet rate quantification, and the gene mutation was detected by melting curve analysis-based PCR assay, and the clinical characteristics of different mutants when acute hemolysis happens were analyzed.@*RESULTS@#387 positive specimens were detected in 732 specimens, among which the gene mutation and the enzyme activity decrease was found in specimens 326, 49 specimens showed gene mutation but without the enzyme activity decrease, and 12 specimens without gene mutation but with the enzyme activity decrease. Among 375 positive samples with gene mutation, c.1376G>T, c.1388G>A, c.1024C>T and c.95A>G were the most common. The enzyme activity of c.1376G>T and c.1388G>A was statistically significantly different with c.1024C>T. The most common incentives of acute hemolysis was broad bean, the reticulocyte count was statistically significantly different among c.1376G>T, c.1388G>A and c.95A>G. The hemoglobin level of c.1376G>T was statistically significantly different from with c.95A>G. Moreover, c.1376G>T, c.1388G>A was lower than c.1024 C>T. When acute hemolysis occurs, the reticulocyte count and hemoglobin changes were different between different mutation types, while the patients age, hospitalization time, blood transfusion, total bilirubin, and urine color recovery time of the patients were not statistically different.@*CONCLUSION@#The common mutants of G6PD deficiency among children in Luzhou area are c.1376G>T, and c.1388G>A, c.1024C>T. Favism is the most common clinical manifestation of G6PD deficiency.


Subject(s)
Child , Glucosephosphate Dehydrogenase , Glucosephosphate Dehydrogenase Deficiency , Hemolysis , Humans , Mutation
4.
Biosci. j. (Online) ; 35(6): 1979-1984, nov./dec. 2019. ilus, tab
Article in English | LILACS | ID: biblio-1049178

ABSTRACT

G6PD deficiency is associated with erythrocyte deficiency in the X-chromosome enzyme. It causes a hematologic syndrome called hemolytic anemia that connects G6PD deficiency with X-linked condition. In the Middle East, including Saudi Arabia, G6PD deficiency is the most dominant genetic blood disorders. It results in higher rates of mortality and morbidity due to its incurable long-lasting nature and prevalence of physical and psychological incapacities. In this study, an attempt was made to evaluate the prevalence of G6PD deficiency among the Saudi population in Riyadh city. A cross-sectional retrospective study was conducted at King Saud University Medical City in Riyadh, Saudi Arabia. The population of the study comprised randomly chosen males and females who visited the hospital from January 2017 to January 2018. Statistical analyses were performed using SPSS, and descriptive analysis was used to find the frequency of G6PD-deficient patients. Out of the 209 patients, 62.2% were males (n=130) and 37.8% were females (n=79). Twenty males and 6 females were found to have G6PD deficiency, with the male to female ratio being 1:3. Out of the total 130 male participants, 20 patients were found to be enzyme deficient and 6 patients of 79 female patients were found to be G6PD deficient. There were 38.4% (n=10) patients with G6PD level <4 units/gram hemoglobin, 26.9% (n=7) patients had G6PD levels of 4.1­7.0 units/gram hemoglobin, and 34.6% (n=9) patients had >7 units/gram hemoglobin. Among the G6PD patients, 23.07% patients were severely anemic, and 5 (19.2%) patients were reported to have high bilirubin. The present study revealed the G6PD prevalence to be 12.4% among the Saudi population; this value is significantly higher than that found in France, Spain, India, and Singapore. In the Saudi population, males are more vulnerable to G6PD-deficient than females. Hence, attention should be paid to G6PD-deficient patients while prescribing antimalarial medication. Such patients may be advised to avoid certain foods to minimize the risk of having hemolytic episodes.


A deficiência de G6PD está associada à deficiência de eritrócitos na enzima do cromossomo X. Causa uma síndrome hematológica chamada anemia hemolítica que conecta a deficiência de G6PD à condição ligada ao X. No Oriente Médio, incluindo a Arábia Saudita, a deficiência de G6PD é o distúrbio genético do sangue mais dominante. Isso resulta em maiores taxas de mortalidade e morbidade devido à sua natureza incurável e duradoura e à prevalência de incapacidades físicas e psicológicas. Neste estudo, foi feita uma tentativa de avaliar a prevalência de deficiência de G6PD entre a população saudita na cidade de Riade. Um estudo retrospectivo transversal foi realizado na cidade médica da Universidade King Saud, em Riade, na Arábia Saudita. A população do estudo compreendeu homens e mulheres escolhidos aleatoriamente que visitaram o hospital entre janeiro de 2017 e janeiro de 2018. As análises estatísticas foram realizadas com o SPSS e a análise descritiva foi utilizada para determinar a frequência de pacientes com deficiência de G6PD. Dos 209 pacientes, 62,2% eram do sexo masculino (n = 130) e 37,8% eram do sexo feminino (n = 79). Verificou-se que 20 homens e 6 mulheres apresentavam deficiência de G6PD, sendo a proporção homem/mulher de 1:3. Do total de 130 participantes do sexo masculino, 20 pacientes apresentaram deficiência de enzima e 6 de 79 pacientes do sexo feminino apresentaram deficiência de G6PD. Havia 38,4% (n = 10) pacientes com nível de G6PD < 4 unidades/grama de hemoglobina, 26,9% (n = 7) pacientes tinham níveis de G6PD de 4,1-7,0 unidades/grama de hemoglobina e 34,6% (n = 9) pacientes tinham > 7 unidades/grama de hemoglobina. Entre os pacientes com G6PD, 23,07% eram severamente anêmicos e cinco (19,2%) pacientes relataram ter alta bilirrubina. O presente estudo revelou que a prevalência de G6PD é de 12,4% na população saudita; esse valor é significativamente maior que o encontrado na França, Espanha, Índia e Cingapura. Na população saudita, os homens são mais vulneráveis à deficiência de G6PD do que as mulheres. Portanto, deve-se prestar atenção aos pacientes com deficiência de G6PD durante a prescrição de medicamentos antimaláricos. Esses pacientes podem ser aconselhados a evitar certos alimentos para minimizar o risco de episódios hemolíticos.


Subject(s)
Glucosephosphate Dehydrogenase , Hemolysis , Anemia, Hemolytic
5.
Electron. j. biotechnol ; 39: 67-73, may. 2019. graf, tab
Article in English | LILACS | ID: biblio-1052039

ABSTRACT

BACKGROUND: The supplementation of betaine, an osmoprotective compatible solute, in the cultivation media has been widely used to protect bacterial cells. To explore the effects of betaine addition on industrial fermentation, Escherichia coli THRD, an L-threonine producer, was used to examine the production of L-threonine with betaine supplementation and the underlying mechanism through which betaine functions was investigated. RESULTS: Betaine supplementation in the medium of E. coli THRD significantly improved L-threonine fermentation parameters. The transcription of zwf and corresponding enzyme activity of glucose-6-phosphate dehydrogenase were significantly promoted by betaine addition, which contributed to an enhanced expression of zwf that provided more nicotinamide adenine dinucleotide phosphate (NADPH) for L-threonine synthesis. In addition, as a result of the betaine addition, the betaine-stimulated expression of enhanced green fluorescent protein (eGFP) under the zwf promoter within a plasmid-based cassette proved to be a transcription-level response of zwf. Finally, the promoter of the phosphoenolpyruvate carboxylase gene ppc in THRD was replaced with that of zwf, while L-threonine fermentation of the new strain was promoted by betaine addition. Conclusions: We reveal a novel mode of betaine that facilitates the microbial production of useful compounds. Betaine supplementation upregulates the expression of zwf and increases the NADPH synthesis, which may be beneficial for the cell growth and thereby promote the production of L-threonine. This finding might be useful for the production of NADPH-dependent amino acids and derivatives in E. coli THRD or other E. coli strains.


Subject(s)
Threonine/metabolism , Betaine/metabolism , Escherichia coli/metabolism , Osmosis , Pentose Phosphate Pathway , Reverse Transcriptase Polymerase Chain Reaction , Escherichia coli/enzymology , Fermentation , Glucosephosphate Dehydrogenase/metabolism , NADP
6.
Article in English | WPRIM | ID: wpr-773582

ABSTRACT

Catalpol, a major bioactive component from Rehmannia glutinosa, which has been used to treat diabetes. The present study was designed to elucidate the anti-diabetic effect and mechanism of action for catalpol in db/db mice. The db/db mice were randomly divided into six groups (10/group) according to their blood glucose levels: db/db control, metformin (positive control), and four dose levels of catalpol treatment (25, 50, 100, and 200 mg·kg), and 10 db/m mice were used as the normal control. All the groups were administered orally for 8 weeks. The levels of fasting blood glucose (FBG), random blood glucose (RBG), glucose tolerance, insulin tolerance, and glycated serum protein (GSP) and the globe gene expression in liver tissues were analyzed. Our results showed that catalpol treatment obviously reduced water intake and food intake in a dose-dependent manner. Catalpol treatment also remarkably reduce fasting blood glucose (FBG) and random blood glucose (RBG) in a dose-dependent manner. The RBG-lowering effect of catalpol was better than that of metformin. Furthermore, catalpol significantly improved glucose tolerance and insulin tolerance via increasing insulin sensitivity. Catalpol treatment significantly decreased GSP level. The comparisons of gene expression in liver tissues among normal control mice, db/db mice and catalpol treated mice (200 and 100 mg·kg) indicated that there were significant increases in the expressions of 287 genes, whichwere mainly involved in lipid metabolism, response to stress, energy metabolism, and cellular processes, and significant decreases in the expressions of 520 genes, which were mainly involved in cell growth, death, immune system, and response to stress. Four genes expressed differentially were linked to glucose metabolism or insulin signaling pathways, including Irs1 (insulin receptor substrate 1), Idh2 (isocitrate dehydrogenase 2 (NADP), mitochondrial), G6pd2 (glucose-6-phosphate dehydrogenase 2), and SOCS3 (suppressor of cytokine signaling 3). In conclusion, catalpol ecerted significant hypoglycemic effect and remarkable therapeutic effect in db/db mice via modulating various gene expressions.


Subject(s)
Animals , Blood Glucose , Metabolism , Diabetes Mellitus, Experimental , Drug Therapy , Genetics , Metabolism , Disease Models, Animal , Dose-Response Relationship, Drug , Drugs, Chinese Herbal , Gene Expression , Glucosephosphate Dehydrogenase , Genetics , Metabolism , Humans , Hypoglycemic Agents , Insulin , Metabolism , Insulin Receptor Substrate Proteins , Genetics , Metabolism , Iridoid Glucosides , Isocitrate Dehydrogenase , Genetics , Metabolism , Liver , Metabolism , Male , Mice , Mice, Inbred C57BL , Rehmannia , Chemistry , Suppressor of Cytokine Signaling 3 Protein , Genetics , Metabolism
7.
Journal of Experimental Hematology ; (6): 1649-1656, 2018.
Article in Chinese | WPRIM | ID: wpr-773041

ABSTRACT

OBJECTIVE@#To explore the change of G6PD activity in children with acute leukemia(AL)and its correlation with the clinical characteristics.@*METHODS@#The G6PD activity in peripheral blood samples from 74 children disagnosed as AL (50 cases of ALL, and 24 cases of AML) was detected by Zinkham method recommended by WHO in 1967, and its relevance with clinical indicators was statistically analyzed. The peripheral blood samples of 70 healthy children were used as the controls.@*RESULTS@#The G6PD activity in ALL and AML groups was significantly lower than that in the control group (P=0.000, P=0.000) and there was no statistical difference between ALL and AML groups. The G6PD activity in bacterial, fungal infection and non-infection groups (no bacterial and fungal infection) were statistically different from control group (P=0.02, P=0.001, P=0.001), respectively. The G6PD activity in bacterial infection group and non-infection group was statistically different from with fungal infection group (P=0.004, P=0.019), respectively. The G6PD activity linearly correlated with leukocyte count and neutrophil percentage in AL children (P=0.000, P=0.001, r=0.465, r=0.434), respectively. The median survival time of G6PD activity deficiency group was higher than that in the normal group, but without statistically significant difference (P=0.4149).@*CONCLUSION@#The G6PD activity in AL children is significantly lower than that in healthy children, and the G6PD activity linearly relates with leukocyte count and neutrophil percentage of AL children. The patients with G6PD activity deficiency is more susceptible to fungal infection, moreover the infection is more serious.


Subject(s)
Acute Disease , Bacterial Infections , Child , Glucosephosphate Dehydrogenase , Glucosephosphate Dehydrogenase Deficiency , Humans , Leukemia, Myeloid, Acute , Neutrophils
8.
Article in Chinese | WPRIM | ID: wpr-772598

ABSTRACT

OBJECTIVE@#: To observe the expression of gene in the early development stage of wild zebrafish embryos.@*METHODS@#: The collinearity of gene and the sequence similarity of G6pd protein were analyzed with gene database and BLAST software, respectively. Expression of gene in different development stages of zebrafish embryos was detected by hybridization. The -EGFP-pCS recombinant plasmids were microinjected into zebrafish embryos, and fluorescence was observed under a fluorescence microscope. The expression of G6pd protein at 24, 48 and 72 hour post fertilization (hpf) zebrafish embryos was detected by Western blotting; the enzyme activity of G6pd at 24, 48 and 72 hpf zebrafish embryos was detected by modified G6pd quantitative ratio method.@*RESULTS@#: The G6pd protein similarity of zebrafish and human was 88%, and that of zebrafish and mouse was 87%. The results of hybridization showed that the gene was mainly expressed in the hematopoietic tissues of zebrafish; the results observed after microinjection of -EGFP-pCS recombinant plasmid were consistent with the results of hybridization. At 24, 48 and 72 hpf, the relative expression levels of G6pd protein in zebrafish embryos were 1.44±0.03, 1.47±0.05, and 1.54±0.02, respectively(>0.05); the G6pd enzyme activity levels were 1.74±0.17, 1.75±0.12, 1.71±0.22, respectively (>0.05).@*CONCLUSIONS@#: The study has observed the expression of gene and G6pd protein, and G6pd enzyme activity in zebrafish embryos at different development phases, which provides a reference for the establishment of a zebrafish G6PD deficiency model.


Subject(s)
Animals , Embryo, Nonmammalian , Gene Expression Regulation, Developmental , Glucosephosphate Dehydrogenase , Genetics , Humans , In Situ Hybridization , Mice , Plasmids , Genetics , Zebrafish , Embryology , Genetics
9.
Article in English | WPRIM | ID: wpr-812371

ABSTRACT

Catalpol, a major bioactive component from Rehmannia glutinosa, which has been used to treat diabetes. The present study was designed to elucidate the anti-diabetic effect and mechanism of action for catalpol in db/db mice. The db/db mice were randomly divided into six groups (10/group) according to their blood glucose levels: db/db control, metformin (positive control), and four dose levels of catalpol treatment (25, 50, 100, and 200 mg·kg), and 10 db/m mice were used as the normal control. All the groups were administered orally for 8 weeks. The levels of fasting blood glucose (FBG), random blood glucose (RBG), glucose tolerance, insulin tolerance, and glycated serum protein (GSP) and the globe gene expression in liver tissues were analyzed. Our results showed that catalpol treatment obviously reduced water intake and food intake in a dose-dependent manner. Catalpol treatment also remarkably reduce fasting blood glucose (FBG) and random blood glucose (RBG) in a dose-dependent manner. The RBG-lowering effect of catalpol was better than that of metformin. Furthermore, catalpol significantly improved glucose tolerance and insulin tolerance via increasing insulin sensitivity. Catalpol treatment significantly decreased GSP level. The comparisons of gene expression in liver tissues among normal control mice, db/db mice and catalpol treated mice (200 and 100 mg·kg) indicated that there were significant increases in the expressions of 287 genes, whichwere mainly involved in lipid metabolism, response to stress, energy metabolism, and cellular processes, and significant decreases in the expressions of 520 genes, which were mainly involved in cell growth, death, immune system, and response to stress. Four genes expressed differentially were linked to glucose metabolism or insulin signaling pathways, including Irs1 (insulin receptor substrate 1), Idh2 (isocitrate dehydrogenase 2 (NADP), mitochondrial), G6pd2 (glucose-6-phosphate dehydrogenase 2), and SOCS3 (suppressor of cytokine signaling 3). In conclusion, catalpol ecerted significant hypoglycemic effect and remarkable therapeutic effect in db/db mice via modulating various gene expressions.


Subject(s)
Animals , Blood Glucose , Metabolism , Diabetes Mellitus, Experimental , Drug Therapy , Genetics , Metabolism , Disease Models, Animal , Dose-Response Relationship, Drug , Drugs, Chinese Herbal , Gene Expression , Glucosephosphate Dehydrogenase , Genetics , Metabolism , Humans , Hypoglycemic Agents , Insulin , Metabolism , Insulin Receptor Substrate Proteins , Genetics , Metabolism , Iridoid Glucosides , Isocitrate Dehydrogenase , Genetics , Metabolism , Liver , Metabolism , Male , Mice , Mice, Inbred C57BL , Rehmannia , Chemistry , Suppressor of Cytokine Signaling 3 Protein , Genetics , Metabolism
10.
Article in Chinese | WPRIM | ID: wpr-775824

ABSTRACT

OBJECTIVE@#To determine the incidence and genotypes of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Dongguan region of Guangdong Province and assess the efficacy and feasibility of flow-through hybridization.@*METHODS@#Peripheral blood samples were randomly selected and detected by modified G6PD/6PGD ratio method. Flow-through hybridization was used to detect 14 G6PD mutations among all samples.@*RESULTS@#In total 1005 samples were collected, the detection rate for modified G6PD/6PGD ratio method and flow-through hybridization were 2.79% and 20.90%, respectively. The consistency of the two methods was poor(Kappa=0.187). When c.1311C>T mutation is excluded, the consistency of the two methods was good for males (Kappa=0.952) but still poor for females (Kappa=0.194). The most common mutations were c.1376G>T, c.1388G>A and c.95A>G. No G6PD deficiency was found among those only carrying the c.1311C>T mutation.@*CONCLUSION@#Flow-through hybridization can simultaneously detect 14 loci, covering over 90% of common mutations in Chinese population, and can be easily expanded. The routine method may miss many females carrying homozygous, compound heterozygous and heterozygous mutations, but the detection rate for male hemizygous mutation was much higher.


Subject(s)
China , DNA Mutational Analysis , Female , Genetic Testing , Genotype , Glucosephosphate Dehydrogenase , Genetics , Glucosephosphate Dehydrogenase Deficiency , Diagnosis , Humans , Male , Mutation
11.
Article in English | WPRIM | ID: wpr-716441

ABSTRACT

BACKGROUND/OBJECTIVES: Obesity is a global health problem of significant importance which increases mortality. In place of anti-obesity drugs, natural products are being developed as alternative therapeutic materials. In this study, we investigated the effect of Brassica juncea L. leaf extract (BLE) on fat deposition and lipid profiles in high-fat, high-cholesterol diet (HFC)-induced obese rats. MATERIALS/METHODS: Male Sprague-Dawley rats were divided into four groups (n = 8 per group) according to diet: normal diet group (ND), high-fat/high-cholesterol diet group (HFC), HFC with 3% BLE diet group (HFC-A1), and HFC with 5% BLE diet group (HFC-A2). Each group was fed for 6 weeks. Rat body and adipose tissue weights, serum biochemical parameters, and tissue lipid contents were determined. The expression levels of mRNA and proteins involved in lipid and cholesterol metabolism were determined by reverse transcription polymerase chain reaction and western blot analysis, respectively. RESULTS: The HFC-A2 group showed significantly lower body weight gain and food efficiency ratio than the HFC group. BLE supplementation caused mesenteric, epididymal, and total adipose tissue weights to decrease. The serum levels of triglyceride, total cholesterol, and low-density lipoprotein cholesterol were significantly reduced, and high-density lipoprotein cholesterol was significantly increased in rats fed BLE. These results were related to lower glucose-6-phosphate dehydrogenase, acetyl-coA carboxylase, and fatty acid synthase mRNA expression, and to higher expression of the cholesterol 7α-hydroxylase and low density lipoprotein-receptor, as well as increased protein levels of peroxisome proliferator-activated receptor α. Histological analysis of the liver revealed decreased lipid droplets in HFC rats treated with BLE. CONCLUSIONS: Supplementation of HFC with 3% or 5% BLE inhibited body fat accumulation, improved lipid profiles, and modulated lipogenesis- and cholesterol metabolism-related gene and protein expression.


Subject(s)
Acetyl-CoA Carboxylase , Adipose Tissue , Animals , Anti-Obesity Agents , Biological Products , Blotting, Western , Body Weight , Brassica , Cholesterol , Diet , Diet, High-Fat , Global Health , Glucosephosphate Dehydrogenase , Humans , Lipid Droplets , Lipoproteins , Liver , Male , Metabolism , Mortality , Mustard Plant , Obesity , Peroxisomes , Polymerase Chain Reaction , Rats , Rats, Sprague-Dawley , Reverse Transcription , RNA, Messenger , Triglycerides , Weights and Measures
12.
Yonsei Medical Journal ; : 746-753, 2018.
Article in English | WPRIM | ID: wpr-716429

ABSTRACT

PURPOSE: The present study investigated the dynamics and prognostic role of messenger RNA (mRNA) expression responsible for 18F-fluorodeoxyglucose (FDG) uptake in FDG positron emission tomography (PET) and radioactive iodine (131I) uptake in whole-body radioactive iodine scans (WBS) in papillary thyroid cancer (PTC) patients. MATERIALS AND METHODS: The primary and processed data were downloaded from the Genomic Data Commons Data Portal. Expression data for sodium/iodide symporter (solute carrier family 5 member 5, SLC5A5), hexokinase (HK1–3), glucose-6-phosphate dehydrogenase (G6PD), and glucose transporter (solute carrier family 2, SLC2A1–4) mRNA were collected. RESULTS: Expression of SLC5A5 mRNA were negatively correlated with SLC2A1 mRNA and positively correlated with SLC2A4 mRNA. In PTC with BRAF mutations, expressions of SLC2A1, SLC2A3, HK2, and HK3 mRNA were higher than those in PTC without BRAF mutations. Expression of SLC5A5, SLC2A4, HK1, and G6PD mRNA was lower in PTC without BRAF mutation. PTCs with higher expression of SLC5A5 mRNA had more favorable disease-free survival, but no association with overall survival. CONCLUSION: Expression of SLC5A5 mRNA was negatively correlated with SLC2A1 mRNA. This finding provides a molecular basis for the management of PTC with negative WBS using 18F-FDG PET scans. In addition, higher expression of SLC5A5 mRNA was associated with less PTC recurrence, but not with deaths.


Subject(s)
Disease-Free Survival , Fluorodeoxyglucose F18 , Genome , Glucose Transport Proteins, Facilitative , Glucosephosphate Dehydrogenase , Hexokinase , Humans , Iodine , Ion Transport , Positron-Emission Tomography , Recurrence , RNA, Messenger , Thyroid Gland , Thyroid Neoplasms
13.
Article in English | WPRIM | ID: wpr-739648

ABSTRACT

During cancer progression, cancer cells are repeatedly exposed to metabolic stress conditions in a resource-limited environment which they must escape. Increasing evidence indicates the importance of nicotinamide adenine dinucleotide phosphate (NADPH) homeostasis in the survival of cancer cells under metabolic stress conditions, such as metabolic resource limitation and therapeutic intervention. NADPH is essential for scavenging of reactive oxygen species (ROS) mainly derived from oxidative phosphorylation required for ATP generation. Thus, metabolic reprogramming of NADPH homeostasis is an important step in cancer progression as well as in combinational therapeutic approaches. In mammalian, the pentose phosphate pathway (PPP) and one-carbon metabolism are major sources of NADPH production. In this review, we focus on the importance of glucose flux control towards PPP regulated by oncogenic pathways and the potential therein for metabolic targeting as a cancer therapy. We also summarize the role of Snail (Snai1), an important regulator of the epithelial mesenchymal transition (EMT), in controlling glucose flux towards PPP and thus potentiating cancer cell survival under oxidative and metabolic stress.


Subject(s)
Adenosine Triphosphate , Cell Survival , Epithelial-Mesenchymal Transition , Glucose , Glucosephosphate Dehydrogenase , Homeostasis , Metabolism , NADP , Oxidative Phosphorylation , Pentose Phosphate Pathway , Reactive Oxygen Species , Snails , Stress, Physiological , United Nations
14.
Protein & Cell ; (12): 123-133, 2017.
Article in English | WPRIM | ID: wpr-757351

ABSTRACT

Human monocyte is an important cell type which is involved in various complex human diseases. To better understand the biology of human monocytes and facilitate further studies, we developed the first comprehensive proteome knowledge base specifically for human monocytes by integrating both in vivo and in vitro datasets. The top 2000 expressed genes from in vitro datasets and 779 genes from in vivo experiments were integrated into this study. Altogether, a total of 2237 unique monocyte-expressed genes were cataloged. Biological functions of these monocyte-expressed genes were annotated and classified via Gene Ontology (GO) analysis. Furthermore, by extracting the overlapped genes from in vivo and in vitro datasets, a core gene list including 541 unique genes was generated. Based on the core gene list, further gene-disease associations, pathway and network analyses were performed. Data analyses based on multiple bioinformatics tools produced a large body of biologically meaningful information, and revealed a number of genes such as SAMHD1, G6PD, GPD2 and ENO1, which have been reported to be related to immune response, blood biology, bone remodeling, and cancer respectively. As a unique resource, this study can serve as a reference map for future in-depth research on monocytes biology and monocyte-involved human diseases.


Subject(s)
Aged , Biomarkers, Tumor , Metabolism , DNA-Binding Proteins , Metabolism , Female , Glucosephosphate Dehydrogenase , Metabolism , Humans , Mass Spectrometry , Methods , Middle Aged , Monocytes , Metabolism , Monomeric GTP-Binding Proteins , Metabolism , Phosphopyruvate Hydratase , Metabolism , Proteomics , Methods , SAM Domain and HD Domain-Containing Protein 1 , Tumor Suppressor Proteins , Metabolism
15.
Duazary ; 14(1): 54-60, 2017. tab
Article in Spanish | LILACS, COLNAL | ID: biblio-987043

ABSTRACT

La Glucosa-6-fosfato deshidrogenasa (G6PD) mantiene intactos los grupos sulfidrilos y ayuda en la detoxificación de radicales libres y peróxidos, por tanto, el déficit provoca daño oxidativo irreversible y destrucción de los eritrocitos cuando estos son sometidos a sustancias oxidativas y al estrés. La infección por Plasmodium spp., produce anemia como consecuencia de la ruptura del eritrocito por parte de este parásito, misma que puede verse agravada en personas infectadas con deficiencia de G6PD al ser expuestos a drogas. Estudio de campo y descriptivo en que se determinó por pruebas bioquímicas la actividad enzimática de G6PD en una comunidad de indígenas Piaroa del municipio Atures, estado Amazonas. La muestra estuvo conformada por 186 individuos, 100 mujeres y 86 hombres. La concentración promedio de hemoglobina fue de 10,6 g/dL, 88,6% de los sujetos resultaron con anemia moderada y ninguno presento deficiencia de G6PD. Se concluye que la anemia es común en indígenas Piaroas, de tipo moderada y carencial; que por prueba bioquímicas no se detecta deficiencia de G6PD; y que este estudio provee información útil a los organismos del Estado encargados de administrar los cuidados de la salud en Venezuela.


Glucose-6-phosphate dehydrogenase (G6PD) remains intact sulfhydryl groups and assist in the detoxification of free radicals and peroxides, therefore deficit irreversible oxidative damage and destruction of the erythrocyte when these are subjected to oxidative substances and stress. Plasmodium spp. infection causes anemia as a result of the rupture of the erythrocyte by this parasite, it can be aggravated in people infected with G6PD deficiency when exposed to drugs. Descriptive field study in which the enzymatic activity of G6PD in an indigenous community of Piaroa municipality of Atures, Amazonas state, was determined by biochemical tests. The sample consisted of 186 individuals, 100 women and 86 men. The average concentration of hemoglobin was 10.6 g/dL, 88, 6% of the subjects were moderately anemic and none had G6PD deficiency. It is concluded that anemia is common in indigenous Piaroas, moderate and deficiency type; no biochemical test that G6PD deficiency is detected; and that this study provides useful information to state agencies responsible for administering health care in Venezuela information.


Subject(s)
Glucosephosphate Dehydrogenase , Indigenous Peoples
16.
Article in English | WPRIM | ID: wpr-50098

ABSTRACT

PURPOSE: This study aimed to determine the prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency among infants with neonatal indirect hyperbilirubinemia (NIH); compare G6PD-deficient and G6PD-normal patients regarding hyperbilirubinemia and need for exchange transfusions (ET); and assess risk factors for ET and kernicterus. METHODS: This is a case-control retrospective study. Medical records of NIH patients admitted to the Pediatric Department, Salmaniya Medical Complex, Bahrain, between January 2007 and June 2010 were reviewed. Data on sex, age at presentation, hospitalization duration, need for ET, hemoglobin (Hb) level, reticulocyte count, direct Coombs test, serum total and indirect bilirubin levels, thyroid function, blood and urine cultures, G6PD status, and blood groups were collected and compared between the G6PD-deficent and G6PD-normal patients. RESULTS: Of 1,159 NIH patients admitted, 1,129 were included, of whom 646 (57%) were male. Among 1,046 patients tested, 442 (42%) were G6PD deficient, 49 (4%) needed ET, and 11 (1%) had suspected Kernicterus. The G6PD-deficient patients were mainly male (P<0.0001), and had lower Hb levels (P<0.0001) and higher maximum bilirubin levels (P=0.001). More G6PD-deficient patients needed ET (P<0.0001). G6PD deficiency (P=0.006), lower Hb level (P=0.002), lower hematocrit count (P=0.02), higher bilirubin level (P<0.0001), higher maximal bilirubin level (P<0.0001), and positive blood culture result (P<0.0001) were significant risk factors for ET. Maximal bilirubin level was a significant risk factor for kernicterus (P=0.021) and independently related to ET (P=0.03). CONCLUSION: G6PD deficiency is an important risk factor for severe NIH. In G6PD-deficent neonates, management of NIH should be hastened to avoid irreversible neurological complications.


Subject(s)
Bahrain , Bilirubin , Blood Group Antigens , Case-Control Studies , Coombs Test , Glucose-6-Phosphate , Glucosephosphate Dehydrogenase Deficiency , Glucosephosphate Dehydrogenase , Hematocrit , Hospitalization , Humans , Hyperbilirubinemia , Hyperbilirubinemia, Neonatal , Infant , Infant, Newborn , Kernicterus , Male , Medical Records , Prevalence , Reticulocyte Count , Retrospective Studies , Risk Factors , Thyroid Gland
17.
Article in English | WPRIM | ID: wpr-8653

ABSTRACT

BACKGROUND: We describe the genetic profiles of Korean patients with glucose-6-phosphate dehydrogenase (G6PD) deficiencies and the effects of G6PD mutations on protein stability and enzyme activity on the basis of in silico analysis. METHODS: In parallel with a genetic analysis, the pathogenicity of G6PD mutations detected in Korean patients was predicted in silico. The simulated effects of G6PD mutations were compared to the WHO classes based on G6PD enzyme activity. Four previously reported mutations and three newly diagnosed patients with missense mutations were estimated. RESULTS: One novel mutation (p.Cys385Gly, labeled G6PD Kangnam) and two known mutations [p.Ile220Met (G6PD São Paulo) and p.Glu416Lys (G6PD Tokyo)] were identified in this study. G6PD mutations identified in Koreans were also found in Brazil (G6PD São Paulo), Poland (G6PD Seoul), United States of America (G6PD Riley), Mexico (G6PD Guadalajara), and Japan (G6PD Tokyo). Several mutations occurred at the same nucleotide, but resulted in different amino acid residue changes in different ethnic populations (p.Ile380 variant, G6PD Calvo Mackenna; p.Cys385 variants, Tomah, Madrid, Lynwood; p.Arg387 variant, Beverly Hills; p.Pro396 variant, Bari; and p.Pro396Ala in India). On the basis of the in silico analysis, Class I or II mutations were predicted to be highly deleterious, and the effects of one Class IV mutation were equivocal. CONCLUSIONS: The genetic profiles of Korean individuals with G6PD mutations indicated that the same mutations may have arisen by independent mutational events, and were not derived from shared ancestral mutations. The in silico analysis provided insight into the role of G6PD mutations in enzyme function and stability.


Subject(s)
Asian Continental Ancestry Group/genetics , Child , Child, Preschool , DNA/chemical synthesis , Exons , Glucosephosphate Dehydrogenase/chemistry , Glucosephosphate Dehydrogenase Deficiency/genetics , Humans , Male , Mutation, Missense , Polymorphism, Genetic , Protein Structure, Tertiary , Republic of Korea , Sequence Analysis, DNA
18.
Article in English | WPRIM | ID: wpr-145724

ABSTRACT

The authors describe the successful perioperative management of a 3-year-old boy from Dubai with glucose-6-phosphate dehydrogenase (G6PD) deficiency, who underwent robot-assisted laparoscopic pyeloplasty for complete right ureteropelvic junction obstruction. G6PD deficiency is a genetic disorder predisposing patients to hemolytic anemia from oxidative stress. Important considerations in anesthetic management include avoiding oxidative stress, which can be caused by various conditions, and monitoring for hypercapnia, which can cause acidosis and hemolysis. Laparoscopic surgery is usually associated with hypercapnia and therefore an increased risk for respiratory acidosis. During surgery in this particular case, efforts were made to avoid carbon dioxide retention and to keep the patient warm. General anesthesia was induced with thiopental sodium, rocuronium, and fentanyl, and maintained with sevoflurane. There were no signs of hemolysis in the perioperative period and he was discharged owing to his improved condition.


Subject(s)
Acidosis , Acidosis, Respiratory , Anemia, Hemolytic , Anesthesia, General , Carbon Dioxide , Child, Preschool , Fentanyl , Glucose-6-Phosphate , Glucosephosphate Dehydrogenase Deficiency , Glucosephosphate Dehydrogenase , Hemolysis , Humans , Hypercapnia , Laparoscopy , Male , Oxidative Stress , Perioperative Period , Thiopental
19.
Rev. Soc. Bras. Med. Trop ; 49(4): 446-455, July-Aug. 2016. tab, graf
Article in English | LILACS | ID: lil-792792

ABSTRACT

Abstract: INTRODUCTION: In the Brazilian Amazon, malaria infections are primarily caused by Plasmodium vivax. The only drug that kills the hypnozoite form of P. vivax is primaquine, thereby preventing relapse. However, treating glucose-6-phosphate dehydrogenase (G6PD)-deficient individuals with primaquine can lead to severe hemolysis. G6PD deficiency (G6PDd) affects approximately 400 million people worldwide, most of whom live in malaria-endemic areas. Therefore, clinicians need tools that can easily and reliably identify individuals with G6PDd. This study estimated the accuracy of the Carestart(tm) G6PD rapid test (Access Bio) in the diagnosis of G6PDd in male participants with and without P. vivax acute malaria. METHODS: Male participants were recruited in Manaus. Malaria diagnosis was determined by thick blood smear. G6PD quantitative analysis was performed spectro photometrically at a wave length of 340nm. The Carestart(tm) G6PD test was performed using venous blood. Genotyping was performed for individuals whose samples had an enzyme activity less than 70% of the normal value. RESULTS: Six hundred and seventy-four male participants were included in this study, of whom 320 had a diagnosis of P. vivax malaria. In individuals with enzyme activity lower than 30% (n=13), the sensitivity, specificity, positive predictive value, and negative predictive value of the Carestart(tm) G6PD test were as follows: 61.5% (95%CI: 35.5%-82.3%), 98.3% (95%CI: 97.0%-99.1%), 42.1% (95%CI: 23.1%-63.7%), and 99.2% (95%CI: 98.2%-82.3%), 98.3% (95%CI: 97.0%-99.1%), 42.1% (95%CI: 23.1%-63.7%), and 99.2% (95%CI: 98.2%-99.7%), respectively. Increases in sensitivity were observed when increasing the cut-off value. CONCLUSIONS: Despite low sensitivity, Carestart(tm) G6PD remains a good alternative for rapid diagnosis of G6PDd in malaria-endemic regions.


Subject(s)
Humans , Male , Child , Adolescent , Adult , Aged , Young Adult , Malaria, Vivax/diagnosis , Point-of-Care Systems , Glucosephosphate Dehydrogenase/blood , Reagent Kits, Diagnostic , Reproducibility of Results , Sensitivity and Specificity , Endemic Diseases , Middle Aged
20.
J. pediatr. (Rio J.) ; 92(4): 394-399, July-Aug. 2016. tab
Article in English | LILACS | ID: lil-792577

ABSTRACT

Abstract Objective To determine eight parameters of oxidative stress markers in erythrocytes from children with sickle cell disease and compare with the same parameters in erythrocytes from healthy children, since oxidative stress plays an important role in the pathophysiology of sickle cell disease and because this disease is a serious public health problem in many countries. Methods Blood samples were obtained from 45 children with sickle cell disease (21 males and 24 females with a mean age of 9 years; range: 3–13 years) and 280 blood samples were obtained from children without hemoglobinopathies (137 males and 143 females with a mean age of 10 years; range: 8–11 years), as a control group. All blood samples were analyzed for methemoglobin, reduced glutathione, thiobarbituric acid reactive substances, percentage of hemolysis, reactive oxygen species, and activity of the enzymes glucose 6-phosphate dehydrogenase, superoxide dismutase, and catalase. Data were analyzed using Student's t-test and were expressed as the mean ± standard deviation. A p-value of <0.05 was considered significant. Results Significant differences were observed between children with sickle cell disease and the control group for the parameters methemoglobin, thiobarbituric acid reactive substances, hemolysis, glucose 6-phosphate dehydrogenase activity, and reactive oxygen species, with higher levels in the patients than in the controls. Conclusions Oxidative stress parameters in children's erythrocytes were determined using simple laboratory methods with small volumes of blood; these biomarkers can be useful to evaluate disease progression and outcomes in patients.


Resumo Objetivo Determinar parâmetros de estresse oxidativo em eritrócitos de crianças com doença falciforme e compará-los com os mesmos parâmetros em eritrócitos de crianças saudáveis, pois o estresse oxidativo desempenha um importante papel na fisiopatologia da doença falciforme, considerada um sério problema de saúde pública em muitos países. Métodos Foram obtidas amostras de sangue de 45 crianças com doença falciforme (21 meninos e 24 meninas com média de 9 anos, variação de 3 a 13) e 280 amostras de sangue de crianças sem hemoglobinopatias (137 meninos e 143 meninas com média de 10 anos, variação de 8 a 11), como grupo controle. Em todas as amostras foram determinados meta-hemoglobina, glutationa reduzida, substâncias reativas ao ácido tiobarbitúrico, porcentagem de hemólise, espécies reativas de oxigênio e atividade das enzimas glucose6-fosfato desidrogenase, superóxido dismutase e catalase. Os dados foram analisados com o teste t de Student e foram expressos como média ± desvio padrão. Um valor de p < 0,05 foi considerado significativo. Resultados Foram observadas diferenças significativas entre as crianças com doença falciforme e o grupo controle para os parâmetros meta-hemoglobina, substâncias reativas ao ácido tiobarbitúrico, porcentagem de hemólise, espécies reativas de oxigênio e atividade da enzima glucose6-fosfato desidrogenase, com níveis aumentados nos pacientes. Conclusões Foi possível determinar parâmetros de estresse oxidativo em eritrócitos de crianças, com técnicas laboratoriais simples e pequenos volumes de sangue. Esses biomarcadores podem ser úteis na avaliação da progressão e dos resultados de tratamentos da doença.


Subject(s)
Humans , Male , Female , Child, Preschool , Child , Adolescent , Oxidative Stress/physiology , Erythrocytes/metabolism , Anemia, Sickle Cell/blood , Reference Values , Superoxide Dismutase/blood , Methemoglobin/analysis , Biomarkers/blood , Catalase/blood , Case-Control Studies , Reactive Oxygen Species/blood , Statistics, Nonparametric , Glucosephosphate Dehydrogenase/blood , Glutathione/blood , Hemolysis/physiology , Anemia, Sickle Cell/physiopathology
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