Glucosephosphate Dehydrogenase Research Articles

The potential role of vitamin E in patients with glucose-6-phosphate dehydrogenase deficiency: A systematic review and meta-analysis.

As an antioxidant, vitamin E (VitE) may benefit the erythrocytes by protecting glutathione from oxidation by free radicals and peroxide-generating processes. We followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses statement guidelines when reporting this systematic review. We searched 6 electronic databases (PubMed, Scopus, Web of Science, and Cochrane Library) until May 8, 2022. We included all relevant studies. According to the study design, the Cochrane assessment tool (Risk of Bias 2), Risk Of Bias In Non-randomized Studies - of Interventions checklists, and National Institutes of Health tools were used to assess the risk of bias.Continuous data were pooled as a mean difference (MD) with a relative 95% confidence interval. The protocol was registered on PROSPERO (CRD42022333848). Six studies were included in the meta-analysis with a total of 181 patients. Compared with the control group, VitE significantly improved the hemoglobin level for chronic hemolysis (MD = 2.72 g/dL, P < .0001) and for acute hemolysis (MD = 1.18 g/dL, P < .0001). It also decreased the reticulocyte level for chronic hemolysis (MD = -1.39 P < .0001) and for acute hemolysis (MD = -1.42%, P < .0001). For before and after studies, the use of VitE significantly improved the level of packed cell volume (MD = 0.56%, P < .00001), red blood cell half-life (MD = 2.19 days, P < .0001), and decreased the reticulocytes level (MD = -1.41%, P < .00001). Among patients with glucose-6-phosphate dehydrogenase deficiency, VitE might provide benefits such as increasing the hemoglobin, packed cell volume levels, red blood cell half-life, and decreasing the reticulocyte level, so reducing hemolysis. Further high-quality, well-designed randomized controlled trials are recommended.

An antiphage Escherichia coli mutant for higher production of L-threonine obtained by atmospheric and room temperature plasma mutagenesis.

Phage infection is common during the production of L-threonine by E. coli, and low L-threonine production and glucose conversion percentage are bottlenecks for the efficient commercial production of L-threonine. In this study, 20 antiphage mutants producing high concentration of L-threonine were obtained by atmospheric and room temperature plasma (ARTP) mutagenesis, and an antiphage E. coli variant was characterized that exhibited the highest production of L-threonine Escherichia coli ([E. coli] TRFC-AP). The elimination of fhuA expression in E. coli TRFC-AP was responsible for phage resistance. The biomass and cell growth of E. coli TRFC-AP showed no significant differences from those of the parent strain (E. coli TRFC), and the production of L-threonine (159.3 g L-1 ) and glucose conversion percentage (51.4%) were increased by 10.9% and 9.1%, respectively, compared with those of E. coli TRFC. During threonine production (culture time of 20 h), E. coli TRFC-AP exhibited higher activities of key enzymes for glucose utilization (hexokinase, glucose phosphate dehydrogenase, phosphofructokinase, phosphoenolpyruvate carboxylase, and PYK) and threonine synthesis (glutamate synthase, aspartokinase, homoserine dehydrogenase, homoserine kinase and threonine synthase) compared to those of E. coli TRFC. The analysis of metabolic flux distribution indicated that the flux of threonine with E. coli TRFC-AP reached 69.8%, an increase of 16.0% compared with that of E. coli TRFC. Overall, higher L-threonine production and glucose conversion percentage were obtained with E. coli TRFC-AP due to increased activities of key enzymes and improved carbon flux for threonine synthesis.

Influence of the butylparaben administration on the oxidative stress metabolism of liver, kidney and spleen

Abstract Objectives Butylparaben is widely used synthetic polymer as preservative in the food, pharmaceutical and cosmetic industries. Although butylparaben is metabolized in the detoxification organs including liver and kidney, some parts of it can retain and accumulate in the body. Parabens can impair developmental and reproductive health, though there is not any published data related with the influence of the butylparaben on the oxidative stress metabolism in the detoxification organs. Therefore, we aimed to evaluate antioxidant enzyme activities in the liver, kidney and spleen of butylparaben-treated rat. Methods Prepubertal Wistar albino male rats were administered with 0, 100, 200, 400 mg/kg/day butylparaben for 28 days. After treatment, enzyme activities were evaluated as the biomarkers of the oxidative stress. Results Enzyme activities including glucose-phosphate dehydrogenase (G6PD), 6-phosphoglucanate dehydrogenase (6-PGD), glutathione reductase (GR), glutathione s-transferase (GST) and glutathione peroxidase (GPx) were impaired upon butylparaben treatment in the liver, kidney and spleen tissues. Conclusions Exposure to endocrine disruptors may affect enzyme activities of the detoxification organs and change the pentose phosphate glutathione (GSH) metabolisms. According to our data oxidative stress metabolism is impaired in the spleen, kidney and liver tissue upon butylparaben treatment that has been indicated first time in the literature.

Retrospective analysis of a ten-year screening project for G6PD deficiency in neonates in Hainan Province

Objective To investigate the prevalence of glucose-6-posphate dehydrogenase (G6PD) deficiency and its gene mutations among neonates in Hainan Province. Methods The G6PD activity of dried blood spots of 914 520 neonates born from 2007 to 2016 was screened by fluorescence spot test in Hainan Province. The G6PD/6-glucose phosphate dehydrogenase (6GPD) ratio method was used to confirm the diagnosis of suspected specimens, and 3 012 of year 2016 dried blood spots of neonates with G6PD deficiency were genotyped using the multicolor probe-based fluorescence melting curve analysis. Results From 2007 to 2016, 36 314 positive cases were screened in 914 520 neonates. A total of 26 370 cases of G6PD deficiency were diagnosed with an incidence rate of 2.88%(26 370/914 520) in Hainan Province. The incidences of G6PD deficiency were 2.80%(21 688/774 555) in ethnic Han population, 3.45% (4 292/124 419) in ethnic Li population, 3.31%(212/6 401) in ethnic Miao population and 1.95%(178/9 145) in other ethnic groups. There were significant differences in the incidence of G6PD deficiency in ethnic Han population and ethnic Li population(χ2=161.261, P=0.000), ethnic Miao population(χ2=6.104, P=0.013) and other ethnic groups(χ2=24.283, P=0.000). A total of 13 mutation types were detected by gene detection in 3 012 confirmed cases of G6PD deficiency, of which c.1376 G>T, c.1388 G>A, c.95 A>G and c.1024 C>T mutations and related combinations accounted for approximately 91.74%. Two mutations outside 16 genotypes, c.86 C>T and c.1311 C>T, were found by gene sequencing. Conclusions The incidence of G6PD deficiency among newborns in Hainan Province is high, and there are ethnic and regional differences. The dominant genetic mutations in Hainan Province are c.1376 G>T, c.1388 G>A, c.95 A>G and c.1024 C>T. Key words: Glucosephosphate dehydrogenase deficiency; Incidence; Retrospective studies; Neonatal screening

Molecular diagnosis and mutation identification in newborn with glucose-6-phosphate dehydrogenase deficiency by DNA sequencing

Objective To evaluate the clinical significance of molecular diagnosis for detecting neonatal glucose-6-phosphate dehydrogenase (G6PD) deficiency and to identify the novel mutations in G6PD gene. Methods Totally 231 newborn blood samples with decreased G6PD deficiency assessed by first-line newborn screening were recruited from Children's Hospital, Chongqing Medical University. G6PD gene mutation analysis was performed by PCR following by Sanger DNA sequencing, and then hotspot mutation sites were confirmed. The relationship between the enzymatic phenotype and genotype was evaluated by comparing the results between the G6PD activity detection and the molecular diagnosis. Novel variations were mutation predicted to identity the pathogenic mutations. Results Totally 125 G6PD patients were identified in present study group, among which 102 patients were classified as positive by G6PD/6PGD quantitative tests, giving out a detecting rate of 81.6%. The 123 patients were confirmed by molecular diagnosis with a detecting of 98.4%. Within the 16 probably positive cases, 11 definite mutations were confirmed by molecular diagnosis. DNA sequencing also confirmed another group of 12 patients from the 113 negative samples, giving a detecting rate of 10.6%. Two novel mutations of G6PD gene, c. 29C>A and c. 361C>T were found in the study, of which, c. 29C>A was observed in 7.3% (9/123) of the samples and might be a new hotspot site in Chinese population. Conclusions Quantitative ratio testing may be not efficient enough for G6PD deficiency diagnosis in patients carrying heterozygous mutations. Novel mutations can be found in G6PD gene and obviously there are regional diversities in the frequency of hotspot mutations for G6PD deficiency. Therefore, DNA sequencing based molecular testing may serve as the most valuable method for the diagnosis of neonatal G6PD deficiency.(Chin J Lab Med, 2016, 39: 843-847) Key words: Glucosephosphate dehydrogenase deficiency; Glucosephosphate dehydrogenase; Sequence analysis, DNA; Molecular diagnostic techniques; Mutation; Neonatal screening

Unexpected Intravascular Hemolysis and Methemoglobinemia during Treatment for Lymphoma

A patient undergoing chemotherapy for relapsed non Hodgkin lymphoma developed tumor lysis syndrome, hypoxia and the abrupt onset of intravascular hemolysis. A past history of unexplained anemia and the finding of blister cells on peripheral smear led to the suspicion of congenital glucose phosphate dehydrogenase (G6PD) deficiency with intravascular hemolysis induced by the drug rasburicase. G6PD deficiency was confirmed by quantitative G6PD assay one month after the episode. Retrospective review of arterial blood gas data confirmed the transient presence of methemoglobinemia accompanying the hemolytic event. Health care providers should be aware of the potential for patients with previously undiagnosed G6PD deficiency to develop hemolysis and methemoglobinemia when oxidant drugs such as rasburicase are administered.

Application of Mass-array gene chip to detect glucose-6-phosphate dehydrogenase gene mutations

Objective To develop the Mass-array gene chip to detect glucose-6-phosphate dehydrogenase (G6PD) gene mutations, and to evaluate its quality. Methods Randomly choosing the children who perform neonatal screening in Neonatal Screening Center of Fujian Maternity and Children Health Hospital from 2006 to 2013. Children were divided into control group and G6PD patient group. Using Genotyping Tools from Sequenom company and the software of Mass-array Assay Design to design the PCR amplification primer of 33 G6PD gene mutations which were well-known in Chinese. Then depending on Mass-array gene chip technology to detect glucose-6-phosphate dehydrogenase gene mutations. DNA Sanger sequencing was used to verify the accuracy of the testing results of gene chip. Results In the 300 children with G6PD deficiency, we detected 9 kinds of simplex single point mutations: 1376G>T, 1388G>A, 95A>G, 1024C>T, 392G>T, 1360C>T, 487G>A, 517T>C, 1365-13T>C and 7 kinds of compound mutations: 871G>A/1365-13T>C/1311C>T, 1004C>A/1311C>T/1365-13T>C, 1376G>T/ 1365-13T>C/1311C>T, 1365-13T>C/1311C>T, 1376G>T/1365-13T>C, 95A>G/1365-13T >C/1311C>T, 1388G>A/1365-13T >C. No G6PD gene mutation was detected in 300 normal children. The results of DNA Sanger sequencing were identical to that of gene chip. Conclusion Mass-array of G6PD gene is an effective, accurate and efficient way for G6PD gene mutation screening.(Chin J Lab Med, 2015, 38: 822-826) Key words: Glucosephosphate dehydrogenase; Mutation; Oligonucleotide array sequence analysis; Sequence analysis, DNA; Polymerase chain reaction

Extra-hepatic manifestations associated with hepatitis E virus infection: a comprehensive review of the literature.

Background and aims: Hepatitis E virus (HEV) infection is a significant public health problem that afflicts almost 20 million individuals annually and causes acute liver injury in 3.5 million, with approximately 56 000 deaths. As with other viral hepatitides, extra-hepatic manifestations could represent an important aspect of this infection. The spectrum of these manifestations is still emerging. Acute pancreatitis and neurological, musculoskeletal, hematological, renal, and other immune-mediated manifestations have been described. The aim of this article is to comprehensively review the published literature of extra-hepatic manifestations associated with HEV infection.Data sources: We searched the PubMed database using the MeSH term “hepatitis E” and each of the extra-hepatic manifestations associated with HEV infection. No language or date restrictions were set in these searches. Searches retrieving articles with non-A, non-B hepatitis were excluded. Additional articles were identified through the reference lists of included articles.Results: Several extra-hepatic manifestations associated with HEV infection have been published. The temporal association between some extra-hepatic manifestations and HEV infection and the exclusion of other possible etiologies suggests that HEV infection could have caused some of them. According to the available data, HEV infection appears to be strongly associated with acute pancreatitis, neurological disorders (with primarily dominant peripheral nerve involvement, most commonly manifested as Guillain-Barré syndrome, followed by neuralgic amyotrophy), hematological diseases (hemolytic anemia due to glucose phosphate dehydrogenase deficiency, and severe thrombocytopenia), glomerulonephritis, and mixed cryoglobulinemia. More data are needed to clarify whether an association exists with musculoskeletal or other immune-mediated manifestations.Conclusions: HEV infection should be considered in patients with acute pancreatitis, Guillain-Barré syndrome, neuralgic amyotrophy, hemolytic anemia due to glucose phosphate dehydrogenase deficiency, severe thrombocytopenia, glomerulonephritis, and mixed cryoglobulinemia. Alternatively, signs and symptoms of these conditions should be sought in patients with acute or chronic HEV infection. More data are needed to confirm the role of HEV in other extra-hepatic disorders.

Clinical evaluation of a melting curve analysis-based PCR assay for glucose phosphate dehydrogenase gene mutation detection

To evaluate the clinical value of multicolor melting curve analysis(MMCA) for detecting genetic mutations in G6PD deficiency. A total of 402 peripheral blood samples(256 males and 146 females) were collected from suspected patients or their relatives at the Prenatal Diagnosis Center of Liuzhou Maternal and Child Health Hospital between March 2012 and May 2012. The samples were screened by G6PD/6PGD quantitative ratio testing. The reliability of the assay was evaluated by multiplex probe melting curve assay(which can detect 16 G6PD mutations) and DNA sequencing through a double blind study. One hundred seventy cases with G6PD/6PGD ratio < 1.0 and 232 cases with G6PD/6PGD ratio ≥ 1.0 were detected by the enzymological method. DNA sequencing has identified 182 wild type samples, 151 hemizygous mutation samples, 5 female homozygous mutation samples, 54 female heterozygous mutation samples and 10 female double heterozygous mutation samples. Multicolor melting curve analysis has detected 185 wild type samples, 148 hemizygous mutation samples, 5 female homozygous mutation samples, 55 female heterozygous mutation samples and 9 female double heterozygous mutation samples. The specificity and sensitivity of G6PD gene mutation detection by multicolor melting curve analysis were 100%(182/182) and 98.6%(217/220), respectively. The positive predictive value and negative predictive value were 99.5%(216/217) and 98.4%(182/185), respectively, and the Youden's index was 0.986. The concordance rate of the sample detection between the melting curve assay and DNA sequencing was 99.0%(398/402). Twenty-one different genotypes were detected by the multicolor melting curve analysis and 24 different genotypes were detected by DNA sequencing. Four samples containing mutations(c.196T>A or c.406C>T) were not detected by multicolor melting curve analysis, which can be attributed to different technical settings of the two methods. Multicolor melting curve analysis for G6PD gene mutation detection is a simple, rapid, sensitive and specific method, which can be used for clinical diagnosis of G6PD deficiency.

Influence of different methods of anesthesia on glucose metabolism of leukocytes in elderly patients undergoing colorectal cancer surgery

Objective To evaluate the influence of different methods of anesthesia on the glucose metabolism of leukocytes in elderly patients undergoing colorectal cancer surgery. Methods Fifty ASA Ⅰ or Ⅱ patients, aged≥65 yr, with body mass index 18-25 kg/m2, scheduled for elective colorectal cancer surgery, were randomly divided into 2 groups ( n = 25 each) : sevoflurane anesthesia group (Sevo group) and sevoflurane anesthesia combined with epidural block group ( S + E group) . The patients in S + E group underwent epidural catheterization, and 2% lidocaine 3 ml was given via the epidural catheter. If no signs of spinal anesthesia were confirmed 5 min later, the mixture of 1% lidocaine and 0.2% tetracaine 8-10 ml was given, and an increment of the mixture 4-5 ml was given every 50 min. During the operation, the end-tidal concentration of sevoflurane was maintained at 0.7 MAC in S + E group and at 1.0 MAC in Sevo group. The depth of anesthesia was adjusted according to the BIS value in both groups. Venous blood samples were taken at 10 min before operation (T1 ), and 60 min, 24 h.and 5 days after the end of operation (T2-4 ) for WBC count and measurement of activities of pyruvate kinase (PK)and glucose-6-phosphate dehydrogenase (G6PD) in the leukocytes. Results Compared with T1, the WBC count at T3 in both groups, the PK activity at T, in group S+E and G6PD activity at T, in group Sevo and at T3,4 in group S + E were significantly increased ( P ＜ 0.01) . Compared with group Sevo, the PK activity at T, and G6PD activity at T3,4 were significantly increased in group S+E ( P ＜ 0.05) . There was no significant difference in the WBC count between the two groups ( P ＞ 0.05) . Conclusion There is no significant change in the WBC count when the two methods of anesthesia are used in elderly patients undergoing colorectal caner surgery, however, sevoflurane anesthesia combined with epidural block enhances the leukocyte function in elderly patients compared with sevoflurane anesthesia alone. Key words: Anesthesia; Leukocytes; Pyruvate kinase; Glucosephosphate dehydrogenase; Aged

Hyperthermia-induced Hsp90·eNOS Preserves Mitochondrial Respiration in Hyperglycemic Endothelial Cells by Down-regulating Glut-1 and Up-regulating G6PD Activity

Uncoupling of NO production from NADPH oxidation by endothelial nitric-oxide synthase (eNOS) is enhanced in hyperglycemic endothelium, potentially due to dissociation of heat shock proteins 90 (Hsp90), and cellular glucose homeostasis is enhanced by a ROS-induced positive feed back mechanism. In this study we investigated how such an uncoupling impacts oxygen metabolism and how the oxidative phosphorylation can be preserved by heat shock (42 °C for 2 h, hyperthermia) in bovine aortic endothelial cells. Normal and heat-shocked bovine aortic endothelial cells were exposed to normoglycemia (NG, 5.0 mM) or hyperglycemia (30 mM). With hyperglycemia treatment, O(2) consumption rate was reduced (from V(O(2)max) = 7.51 ± 0.54 to 2.35 ± 0.27 mm Hg/min/10(6) cells), whereas in heat-shocked cells, O(2) consumption rate remained unaltered (8.19 ± 1.01 mm Hg/min/10 × 10(6) cells). Heat shock was found to enhance Hsp90/endothelial NOS interactions and produce higher NO. Moreover, ROS generation in the hyperglycemic condition was also reduced in heat-shocked cells. Interestingly, glucose uptake was reduced in heat-shocked cells as a result of decrease in Glut-1 protein level. Glucose phosphate dehydrogenase activity that gives rise to NADPH generation was increased by hyperthermia, and mitochondrial oxidative metabolism was preserved. In conclusion, the present study provides a novel mechanism wherein the reduced oxidative stress in heat-shocked hyperglycemic cells down-regulates Glut-1 and glucose uptake, and fine-tuning of this pathway may be a potential approach to use for therapeutic benefit of diabetes mellitus.

Biochemical genetic relationship of Thailand and Hawaii isolates of Parastrongylus cantonensis (Nematoda: Angiostrongylidae)

The genetic relationship of the Thailand and Hawaii isolates (strains) of the rat lungworm Parastrongylus (= Angiostrongylus) cantonensis was investigated by gene–enzyme systems using vertical polyacrylamide slab gel electrophoresis. Six gene–enzyme systems were successfully determined, with each being represented by two presumptive loci. Glucose phosphate dehydrogenase, glucose phosphate isomerase, lactate dehydrogenase, malate dehydrogenase and malic enzyme were monomorphic at both loci, and the respective bands exhibited similar mobility in both isolates implying absence of genetic variation. Of the two phosphoglucomutase loci, the faster-moving locus (PGM-1) was polymorphic in the Hawaii isolate, represented by two alleles, the faster-moving, less common Pgm-1 A (allele frequency = 0.36 ± 0.03) and the slower-moving, more common Pgm-1 B (allele frequency = 0.64), with heterozygosity of 0.43. PGM-1 was monomorphic in the Thailand isolate, represented by the faster-moving Pgm-1 A allele. The slower-moving PGM-2 locus was invariant, with a single band of enzyme activity, in the female worms of both the Thailand and Hawaii isolates. There was no detectable enzyme activity at this PGM-2 locus in the male worms of both isolates. The non-expression or ‘null’ PGM-2 phenotype in the male worms was presumed to be sex-limited. Based on the six gene–enzyme systems with a total of 12 presumptive loci, it can be concluded that the Thailand and Hawaii isolates of P. cantonensis are genetically very similar, with a genetic distance of D = 0.03. The very low proportion of polymorphic loci ( P = 0.08) in the Hawaii isolate and its absence in the Thailand isolate may be attributed to founder effect (a special type of genetic drift).

Evaluación de dos métodos para la separación de RNA mensajero de Plasmodium falciparum

The study of gene expression regulation often requires the isolation of mRNA from the total RNA present in the cell. To guarantee the presence of sequences which are not expressed in abundance, it is necessary to obtain mRNA preparations which fully represent the messenger population of the organisms under study. In this work, Plasmodium falciparum mRNA purification efficiency, obtained by two methods, is evaluated: affinity chromatography using oligo dT cellulose columns and mRNA capture by solution hybridisation with an oligo dT primer. Similar mRNA amounts were obtained by the two methods and purification efficiency was between 0.7 and 1.1 % of the total RNA used initially. The size of the cDNA synthesised by the affinity chromatography method (0.4-4 Kb) and by the capture method (0.4-8 Kb), shows that the second method produced longer mRNAs than the first one. The finding of one copy gene clones such as tubulin, actin II, myosin, calmodulin, glucose phosphate isomerase and glucose phosphate dehydrogenase, in cDNA gene libraries, allows us to infer a good expressed sequence representativity in mRNA preparation.

Oxidative activation of K-Cl cotransport by diamide in erythrocytes from humans with red cell disorders, and from several other mammalian species.

Red blood cells (RBCs) from different mammalian species were investigated for the presence of diamide-induced oxidative activation of K-Cl cotransport reported to be present in sheep but absent in human RBCs. K efflux was measured in RBCs from human with hemoglobin (Hb) A or S, glucose-phosphate dehydrogenase (G6PDH) and a cytoskeletal deficiency, and from rat, mouse and rabbit. RBCs were incubated with diamide (0-1.0 mm) in K-free Cl or NO3 media of variable osmolalities (200-450 mOsM). Cl-dependent K efflux or K-Cl cotransport (estimated as the difference between K efflux rate constants in Cl and NO3) was activated by diamide in a sigmoidal fashion. Relative maximum K-Cl cotransport followed the sequence: human HbA (1) < rabbit (1.8) < sheep (6.9) < human HbS (9.5) approximately rat (9.7). Relative diamide concentrations for half maximal activation of K-Cl cotransport followed the sequence: sheep (1.9) > human Hb A (1) > rabbit (0.75) > human HbS and rat (0.67). Cell swelling in 200 mOsM doubled K-Cl cotransport in diamide, both in human HbA and S cells but reduced that in rat RBCs. In contrast, cell shrinkage at 450 mOsM obliterated K-Cl cotransport in human HbA and S but not in rat RBCs. Human RBCs with G6PDH and a cytoskeleton deficiency behaved like HbA RBCs. In mouse RBCs, diamide-activated K-Cl cotransport was 30% higher in isotonic than in hypotonic medium. In human HbA and S, and in low or high K sheep RBCs fractionated by Percoll density gradient, diamide increased the activity of K-Cl cotransport, an effect inversely correlated with cell density. Analysis of pooled data reveals that K-Cl cotransport accounted for about 80% of all K flux in Cl. There was a statistically significant correlation between K-Cl cotransport and K efflux in Cl (P < 0. 00001) and in NO3 (P < 0.00001). In conclusion, a diamide-activated K-Cl cotransport was present in human RBCs and in all other mammalian RBCs tested, with a large inter-, and for human and sheep, intraspecies variability for its maximum activity.

Molecular analysis of glial cell development in the canine 'shaking pup' mutant.

The shaking pup, a canine mutant, carries a point mutation in the myelin proteolipid protein (PLP) gene that causes dysmyelination of the central nervous system (CNS) with resultant tremor, seizures, and other persistent neurological deficits. The developmental potential of glial cells in the shaking pup CNS and peripheral nervous system (PNS) was evaluated by quantitative analysis of the expression of several glial-specific genes. All of the myelin-associated genes demonstrated developmental patterns of expression similar to those observed in the controls, but at significantly reduced levels. Expression of the genes for the major CNS myelin proteins, PLP and the myelin basic protein, are most dramatically affected in the shaking pup, although reduced expression levels are observed for other oligodendrocyte-specific genes such as 2',3'-cyclic nucleotide 3'phosphodiesterase and glucose phosphate dehydrogenase. The pattern of gene expression in the shaking pup indicates that the oligodendrocytes experience an inhibition in development after the myelination program has begun. There appears to be little evidence for an astrocytic response to the dysmyelinating condition at the RNA level, but we present evidence for ectopic expression of P0 mRNA in the CNS. Expression of the P0 and PLP genes in the sciatic nerve appears to be normal, reinforcing previous reports that PNS myelination is unaffected by the mutation in the PLP gene.

Glucose phosphate dehydrogenase polymorphism and the genetics of linkage group II in the Norway rat (Rattus norvegicus).

A new variant of glucose phosphate dehydrogenase was discovered in rat erythrocytes and shows autosomal dominant inheritance. The locus, provisionally denoted Gpd, is closely linked to catalase (Cs-1), and there is some evidence that these loci may be assignable to linkage group II. Also in linkage group II, Pgd (6-phosphogluconate dehydrogenase) was found to be linked to b (brown). The linkage between Pgd and b permits linkage group II to be assigned to chromosome 5.

Glucose-6-phosphate dehydrogenase and its relationship to mental retardation

This study involved 100 patients who were classified as mentally retarded and who were hospitalized under state care. These patients, during the course of their annual physical, were screened for glucose-6-phosphate dehydrogenase (G-6-PD) deficiency. The incidence of G-6-PD deficiency for both black and white subjects (S's) was compared to the incidence of G-6-PD deficiency to be expected in a normal population of each ethnic group. The screening and subsequent statistical analysis of the data indicates that the incidence of G-6-PD is drastically higher among Caucasian males in the atypical population than is to be expected and it is somewhat higher among the atypical Negroes. A chi-square analysis of the observed incidence as compared to the expected incidence produces a difference that is statistically significant to the .001 level for the Caucasians. It is felt that the results of the study, albeit, based on only 100 S's, indicates strongly that there may be a relationship between G-6-PD deficiency and limited mental capacity. Glucose phosphate dehydrogenase deficiency Mental retardation Enzymes Metabolism Glucose Phosphate Dehydrogenase Blood

Effect of estrogens on glucose phosphate dehydrogenase activity of liver and oviduct in the amphibian bufo arenarum

Glucose- 6phosphate dehydrogenase (G-6PDH) stimulation by Bstradiol- 17β has been studied in oviduct and liver of Bufo arenarum . OviducalG-6PDH has been found to be stimulated by a single dose of estradiol- 17β ( 100μg 100 g body weight), the stimulation being dependent on season. Hepatic G-6PDH of females is susceptible to hormonal etinulation, without seasonal variation, while in males the enzymatic activity is not Modified under the same conditions. The stimulating effect of estrogen on oviducal and hepatic S- 6PDH was inhibited by Actynomicin D. The susceptibility of G- 6PDH to estrogenic action would assure NADPH production, indispensable for the biosynthesis of lipids which are required for cell growth and for hepatic viteilogenesis.

Some properties of erythrocyte glucose-phosphate dehydrogenase in psoriatics.

Erythrocyte glucose-6-phosphate dehydrogenase from patients with psoriasis has been isolated and characterized. The enzyme differed from normal in its affinity for NADP, thermostability and pH dependence.

A simplified procedure for the isolation of a highly active crystalline glucose-6-phosphate dehydrogenase from Candida utilis

A simple procedure for the isolation of crystalline glucose-6-phosphate dehydrogenase from dried Candida is described. The procedure allows the simultaneous purification of phosphogluconate dehydrogenase and ribose phosphate isomerase. The glucose phosphate dehydrogenase is electrophoretically homogeneous; its specific activity is about twice that of the best preparations reported previously. Isoelectric focusing over a distance of 1 m reveals 2 peaks of glucose-6-phosphate dehydrogenase activity.