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PubMed1977

Independence of glycogen accumulation and glucose-6-phosphate dehydrogenase induction in rat liver.

The responses of liver glycogen and glucose-6-phosphate dehydrogenase (G6PD) (EC 1.1.1.49) to a high glucose, adequate protein diet were compared between rats previously starved 2 days, then refed a high protein, carbohydrate-free diet for 2 days, and rats previously fed the high protein diet for 4 days. Glycogen levels increased dramatically during the first day the high carbohydrate diet was fed, then decreased gradually on the second day. The response was the same regardless of whether the rats had been starved more before the high protein diet was fed. Liver G6PD activity also increased when the high carbohydrate diet was fed, and continued to increase on the second day. The increase in G6PD, however, was significantly greater in the rats which had been starved before the high protein diet was fed. It is suggested that some process occurs during starvation that predisposes the induction of G6PD upon refeeding a high carbohydrate diet, over and above any effect of glycogen accumulation and breakdown. Glucose or glucose-6-phosphate derived from glycogen does not appear to be the primary inducer of G6PD in rat liver.

Animals↗

PubMed2002

Sex-chromosome linked gene expression in in-vitro produced bovine embryos.

The expression of XIST, G6PD, HPRT, ZFX and ZFY were investigated in in-vitro produced bovine embryos. Transcripts of these genes were assayed by RT-PCR in pools of pre-compaction stage embryos and sexed pools of morulae and blastocysts. The expression of XIST, G6PD, HPRT and ZFX in female and male morulae and blastocysts were compared using a semi-quantitative RT-PCR. G6PD, HPRT and ZFX transcripts were noted in all pre-compaction stage embryos and in female and male blastocysts. ZFY transcripts were detected in unsexed pools of 8-16-cell stage embryos and in male blastocysts. XIST transcripts were detected in unsexed pools at the 8-16 cell stage, in male and female morulae, and in female blastocysts. The level of XIST RNA was significantly higher in female morulae than in males. Levels of G6PD and HPRT RNA were also higher in female morulae and blastocysts than in males, but only G6PD levels were significantly different between the sexes. The expression of ZFX was also significantly higher in female than in male blastocysts. These results show sexually dimorphic expression of sex chromosome linked genes prior to the blastocyst stage in in-vitro produced bovine embryos.

Animals↗

PubMed1984

Complete concordance between glucose-6-phosphate dehydrogenase activity and hypomethylation of 3' CpG clusters: implications for X chromosome dosage compensation.

To explore the molecular basis of X chromosome inactivation, we have examined the human locus for glucose-6-phosphate dehydro-genase (G6PD) in various human tissues. Studies of DNA from males and females and from somatic cell hybrids with active or inactive X chromosomes, show that two remarkably dense clusters of CpG dinucleotides in the 3' coding sequences are hypomethylated in active G6PD genes but extensively methylated in inactive ones. Reacquisition of G6PD activity, either spontaneous or induced by 5-azacytidine, is accompanied by demethylation of both clusters; however, the clusters remain methylated in reactivants that express HPRT but not G6PD. Our observations implicate these 3' CpG clusters in the transcription of G6PD and in maintenance of dosage compensation for X linked housekeeping genes.

Alleles↗

PubMed1986

Estimation of risk of glucose 6-phosphate dehydrogenase-deficient red cells to ozone and nitrogen dioxide.

It has been suggested that the more than 1 million black Americans with the A- variant of glucose-6-phosphate dehydrogenase deficiency (G6PD) are at risk for adverse hematologic effects due to inhalation of ambient levels of oxidant gases. To evaluate this hypothesis studies were performed that included direct exposure of human G6PD-deficient red cells, and of mouse strains with different G6PD levels, to the oxidant gases ozone and nitrogen dioxide. Using the oxidant drug phenylhydrazine in part as a point of comparison, conservative extrapolation of the data indicates that exposure to levels of ozone or nitrogen dioxide at least one and probably two orders of magnitude above the LD50 would be required for any hematologic effect to be observed of pertinence to G6PD deficiency. It is concluded that there is no reason to remove or preclude from the workplace black employees with the common A- variant of red cell G6PD deficiency who potentially are exposed to oxidant gases.

Animals↗

PubMed1994

Molecular characterization of glucose-6-phosphate dehydrogenase deficiency in Chinese infants with or without severe neonatal hyperbilirubinaemia.

To characterize mutations in the glucose-6-phosphate dehydrogenase (G6PD) gene in Chinese infants, we studied 213 G6PD-deficient infants without blood exchange transfusion (BET) therapy, and 34 patients who required BET therapy for their severe hyperbilirubinaemia after birth. Nine different point mutations were characterized in all infants. Of these mutations, the G to T substitution at cDNA nucleotide (nt) 1376, which accounts for the mutations in 131 (53.0%) neonates, followed by G to A substitution at nt 1388 in 18 (10.5%) infants, A to G substitution at nt 493 in 17 (6.9%) infants, A to G substitution at nt 95 in 10 (4.1%) infants, C to T substitution at nt 1024 in six (2.4%) infants, and G to T substitution at nt 392 in three (1.2%) infants, G to A substitution at nt 487 in two (0.8%) infants, C to T substitution at nt 1360 in two (0.8%) infants and C to T substitution at nt 592 in two (0.8%) infants. Mutations in 48 (19.5%) G6PD-deficient infants were not characterized. Most (64.7%) mutations in the G6PD-deficient infants who required BET therapy after birth result from a G to T substitution at nt 1376. The enzyme activity of G6PD deficient infants who required BET therapy is significantly lower than for those who did not, even in a group with the same variant (as in 1376 mutation). Severe neonatal jaundice requiring BET therapy can take place with the majority of variants encountered in this area.

Base Sequence↗

PubMed1992

The clonal organization of the squamous epithelium of the tongue.

Knowledge of the kinetics and stem cell localization of the mouse lingual epithelium is largely based on studies using DNA labelling techniques. We have adopted a different approach, using histochemistry for the X-linked enzyme glucose-6-phosphate dehydrogenase (G6PD). We have deduced clone size and morphology from studies of patch size and distribution in mice heterozygous for G6PD deficiency and from the identification of clonal enzyme loss induced in normal mice by application of a mutagen. Lingual epithelium of female mice (CBA X GPDX) heterozygous for G6PD deficiency showed multiple clearly defined patches of strong or weak enzyme activity, corresponding in intensity to the strong staining uniformly present in the normal parental strain (CBA) or to the weak staining uniformly present in the G6PD deficient parental strain (GPDX). This pattern results from the random suppression of either the paternal or the maternal X chromosome in each cell early in embryonic development, and the subsequent inheritance of X inactivation in daughter cells, giving rise to phenotypic patches each composed of one or more clones. The patch borders intersected the base of the lingual epithelium at small indentations or at the apices of connective tissue papillae; the surface intersection in some cases bisected filiform papillae. Patch width measured in tissue sections at the mid rete ridge level, showed a clear mode close to 40 microns, corresponding very closely to the mode for rete ridge width (i.e. distance between connective tissue papillae). Further evidence for clonal organization was obtained by inducing mutations in the lingual epithelium of CBA mice by topical mutagen application. A few clearly defined patches of enzyme loss were found with a mean diameter of 36 microns. Their morphology was very similar to that of patches in the heterozygous animals. We interpret these patches as clones derived from stem cells with induced somatic G6PD mutations. We conclude that the mouse lingual epithelium is a stem cell epithelium composed of clonal units of about 40 microns diameter, based on the rete ridge structure and that both connective tissue papillae and filiform papillae occur at the junction of two or more epithelial clones.

Animals↗

PubMed1979

Glucose-6-phosphate dehydrogenase deficiency in Sicily. Incidence, biochemical characteristics and clinical implications.

This report deals with the incidence, type and clinical implications of G6PD deficiency in Sicily. Of 3347 male subjects examined, 56 were deficient in G6PD. They were distributed throughout the island. The G6PD levels in RBC were almost zero; in leukocytes, platelets and saliva they were found to be 26%, 18% and 16%, respectively, of controls. The Michaelis constant for NADP and G6PD was lower than for controls. Conversely, the utilization of the analogous Ga16P and 2dG6P was higher. The thermostability of the enzyme was lower and the pH optima (6.5 and 9.5) were different from the controls. An identical electrophoretic pattern was found both in normal and deficient subjects. This pattern is superimposable on that described as Mediterranean variant. The analysis among 270 subjects admitted to our Clinic with hemolysis due to G6PD deficiency demonstrated that the most frequent disease is favism, followed by neonatal jaundice, while hemolysis due to drugs is very rare. Ingestion of fresh fava beans was the most frequent cause of favism, but cases occurred after breast feeding and inhalation of pollen.

Adolescent↗

PubMed1982

Glucose-6-phosphate dehydrogenase deficiency: genetic heterogeneity in Sardinia.

Glucose-6-phosphate dehydrogenase (G6PD) was partially purified from red blood cells of 44 Sardinian males with severe enzymatic deficiency and the variants characterized chromatographically and biochemically to see if there is genetic heterogeneity of the enzyme in Southern Sardinia. Three different variants associated with severe G6PD deficiency were identified: the common G6PD Mediterranean variant; G6PD Sassari, recently described by Testa et al. (1980), and a new variant that we have designated G6PD Cagliari. Family studies were carried out to demonstrate that these variants are due to the presence of different alleles.

Chromatography, Ion Exchange↗

PubMed1984

Diabetic ketoacidosis does not precipitate haemolysis in patients with the Mediterranean variant of glucose-6-phosphate dehydrogenase deficiency.

Diabetic ketoacidosis is traditionally stated as being capable of precipitating haemolysis in patients deficient in glucose-6-phosphate dehydrogenase (G6PD). This, however, is based on only a few case reports with inadequate documentation. A study was therefore conducted to review the subject in people with the Mediterranean variant of G6PD deficiency. Perusal of the medical records for the years 1970-82 yielded 15 patients with G6PD deficiency who had been admitted to hospital for a total of 36 episodes of diabetic ketoacidosis. Ten of these episodes had been complicated by haemolytic anaemia, but in every one there was unequivocal evidence of either concurrent bacterial infection or inadvertent ingestion of drugs, either of which might induce haemolysis in G6PD deficient patients. In the remaining 26 episodes there was no evidence of developing or established haemolytic anaemia. From these findings diabetic ketoacidosis should not be regarded as a risk factor for haemolysis in the Mediterranean variant of G6PD deficiency.

Adult↗

PubMed1996

Lactose absorption in patients with glucose 6-phosphate dehydrogenase deficiency with and without favism.

BACKGROUND: It has recently been suggested that primary lactase deficiency might have been selected for by malaria, as has been previously shown to occur for thalasaemia and glucose 6-phosphate dehydrogenase (G6PD) deficiency. AIMS: To test this hypothesis, the prevalence of primary lactase deficiency in G6PD deficient subjects and in controls from the area of Sassari (Northern Sardinia) was determined, which in the past was characterised by an intermediate malarial endemicity. SUBJECTS: 70 adult subjects with G6PD deficiency, 34 of whom had a past history of favism, and 50 age matched control subjects. METHODS: The capacity to absorb lactose was assessed by measuring breath hydrogen production after oral administration of lactose (50 g) by a gas chromatographic method. RESULTS: Twenty per cent of G6PD deficient subjects with a positive history of favism and 22% of G6PD deficient subjects without a positive history of favism were lactose absorbers compared with 14% lactose absorbers in the control group. The differences were not statistically significant. CONCLUSIONS: These data show that the prevalence of primary lactase deficiency in the area of Sassari is relatively high, but comparable to that seen in the adult population from another area of southern Italy (Naples) where malaria was less endemic.

Adult↗

PubMed1968

Glucose-6-phosphate dehydrogenase deficiency in Chinese.

In a Chinese population 1,000 full-term male neonates and a further 117 jaundiced neonates of both sexes were studied in an investigation of the frequency of deficiency of erythrocyte glucose-6-phosphate dehydrogenase (G6PD). This enzyme was found to be deficient in 3.6% of male neonates. Correlation of the results with the birthplace of the 602 mothers who were known to come from Kwangtung province showed no significant differences in the frequency of the deficiency between certain parts of the province.The deficiency of G6PD in hemizygous males is profound but it is not associated with erythrocyte acid monophosphoesterase deficiency in Chinese in Hong Kong. The G6PD deficiency accounts for 15.4% of all the 117 cases of neonatal jaundice. The relative importance of G6PD deficiency as a cause of neonatal jaundice does not differ materially in male and female mutants. Neonatal jaundice can occur in all genotypes of G6PD mutation in Chinese.

Acid Phosphatase↗

PubMed1984

Metabolic alterations after dehydroepiandrosterone treatment in Zucker rats.

Dehydroepiandrosterone (DHEA) is a known noncompetitive inhibitor of glucose-6-phosphate dehydrogenase (G6PD). In the present investigation, the effects of chronic DHEA treatment on G6PD and several other enzymes involved in lipid metabolism were examined in lean and obese Zucker rats. Significant decreases in body weight were found in DHEA-treated rats in comparison with nontreated rats. In lean rats, DHEA treatment did not decrease either liver or adipose tissue G6PD and fatty acid synthetase activity, but malic enzyme activity was increased. In obese rats, decreased liver and adipose tissue G6PD and fatty acid synthetase activities were found. Malic enzyme activity in liver of obese DHEA rats was increased but not in adipose tissue. Adipose tissue lipoprotein lipase activity was decreased in both lean and obese DHEA rats. Serum insulin in obese DHEA rats was also decreased compared with control obese rats. These results indicate that the inhibition of G6PD may not be the mechanism of action of the antiobesity effect of DHEA. However, the metabolic effects of DHEA seen in obese rats may contribute to its antiobesity action.

Adipose Tissue↗

PubMed1989

Vitamin D3 and glucose-6-phosphate dehydrogenase in rat duodenal epithelial cells.

A microdensitometric method was employed to determine enzyme activities in situ in undisrupted tissue rat duodenum. The effect of 1 alpha,25-dihydroxyvitamin D3 [1,25(OH)2D3] on glucose-6-phosphate dehydrogenase (G6PD) activity and on the two utilization pathways of synthesized NADPH, H1 (mixed function oxidation) and H2 (biosynthesis), was studied. In normal animals, a crypt-to-villus gradient of G6PD activity and of both NADPH utilization pathways was observed. A high level of NADPH utilization occurred predominantly via the H2 pathway. In vitamin D-deficient rat animals, G6PD activity in the middle part of the villus was approximately 60% lower than in normal animals [10.05 +/- 0.35 vs. 3.95 +/- 0.26 (means +/- SE) A585.min-1.micron-3 X 10(5), P less than 0.001] with reduced NADPH utilization via the H2 pathway (8.39 +/- 0.49 vs. 2.73 +/- 0.43 A585.min-1.micron-3 X 10(5), P less than 0.001) but not the H1 pathway (1.65 +/- 0.17 vs. 1.22 +/- 0.19 A585.min-1.micron-3 X 10(5), P = NS). Intraperitoneal administration of 1,25(OH)2D3 (500 pmol) to vitamin D-deficient animals resulted in increased G6PD activity within 30 min (4.09 +/- 0.38 vs. 5.51 +/- 0.39 A585.min-1.micron-3 X 10(5), P less than 0.05), attaining normal levels within 2 h. The H2 but not the H1 pathway of NADPH utilization increased significantly in response to 1,25(OH)2D3. This increase is essentially located in the basal and middle parts of the villus. Thus 1,25(OH)2D3 may influence biosynthesis in the duodenum via stimulation of G6PD activity and the H2 pathway of NADPH utilization.

Animals↗

PubMed1980

Population studies in Cameroon: hemoglobin S, glucose-6-phosphate dehydrogenase deficiency and falciparum malaria.

Examination of blood samples from 1,183 individuals from Cameroon indicates that sickle cell trait frequencies and G6PD deficiency frequencies were heterogeneous among villages as well as within geographic areas and ethnic groups. Mean parasite counts were significantly correlated with Hb AS frequencies for children 6 years of age and under, although no correlation was found for mean parasite counts and G6PD deficiency frequencies. The mean age of sickle cell trait individuals was found to be significantly greater than the mean age of Hb AA individuals. The mean age of G6PD-deficient males did not differ from the mean age of G6PD-normal males. Hb AA and Hb AS children did not differ significantly in mean positive parasite counts. Falciparum malaria appears to be a selective pressure keeping Hb S frequencies high; yet it may not be the major selective force maintaining the G6PD polymorphism.

Age Factors↗

PubMedDate not supplied

Molecular characterisation of red cell glucose-6-phosphate dehydrogenase deficiency in north-west Pakistan.

233 Pushtoons (129 males and 104 females), 51 Punjabi Muslims (29 males and 22 females) and 21 Afghans (15 males and 6 females) were screened for the presence of red cell glucose-6-phosphate dehydrogenase (G6PD) variants by a dye decolouration screening test and starch gel electrophoresis. The overall frequency of G6PD deficiency in males was found to be about 10%. 17 male G6PD-deficient samples were further investigated for the C-->T substitution at nucleotide (nt) 563 (the Mediterranean mutation) and the C-->T substitution at nt 1311 (the 'silent' allele) of the G6PD gene by PCR amplification followed by digestion with appropriate restriction enzymes. 10 of the 13 Pushtoon, 2 Punjabi and 1 Afghan males had the 563 mutations. Only 1 (Punjabi) out of 13 G6PD-deficient males with the 563 mutation had the silent mutation at nt 1311. The frequency of the silent mutation was found to be about 0.20 in the 60 Pushtoon and 19 Punjabi non-deficient males.

Base Sequence↗

PubMed1981

Changes in glucose 6-phosphate dehydrogenase and phosphofructokinase activity during maturation and ageing of red blood cells in children with chronic renal insufficiency.

Red blood cells (RBC) of children with terminal renal insufficiency show a reduction of the apparent 51Cr RBC half-life (16.5 +/- 5.5 days). The enzymatic activities of phosphofructokinase (PFK) and glucose 6-phosphate dehydrogenase (G6PD) in the RBC of these patients do not differ from those in health persons. The RBC of uraemic and healthy children were separated by density gradient centrifugation in dextran medium according to maturity and age. RET count, mean cellular Hb concentration (MCHC), PFK and G6PD activities were determined in the separated cell populations. MCHC increases with increasing cell density while the number of RET decreases. There is a distinct decrease in the G6PD activity of low-density cells compared to high-density cells. The extent of the decrease in enzymatic activity is about the same for healthy persons as for uraemic patients. A more rapid decrease in G6PD activity per unit of time can be assumed when the enzymatic activity is plotted against the distinctly shortened life span of the RBC of the uraemic children. There is a possible relationship between G6PD activity in old RBC and the premature destruction of these cells. PFK activity apparently does not decrease with increasing cell age.

Adolescent↗

PubMed1977

Accuracy of portein synthesis and in vitro aging. Search for altered enzymes in senescent cultured cells from human livers.

The authors have looked for altered proteins in senescent cultured cells from adult liver. Four enzymes (phosphoglycerate kinase, M2 type pyruvate kinase, glucose phosphate isomerase and glucose-6-phosphate dehydrogenase) have been studied by immunological and enzymatic titration and electrofocusing. In addition, heat stability of glucose-6-phosphate dehydrogenase (G6PD) was appraised in cell crude extracts and in partially purified preparations. Enzymatic aactivity as well as immunological reactivity of the four enzymes studied were identical 16 lines in phase II and in 13 lines in phase III. Electrofocusing pattern of the enzymes from 'young cells' was identical to the ones from 'old cells'. Finally, G6PD from old cells seemed to be more unstable than G6PD from young cells when studied in crude extracts. These differences, however, disappeared as G6PD was partially purified from old or young cultured cells. Consequently, no evidence of altered protein, either missynthesized or posttranslationally modified, was found in the senescent cultured cells studied. Moreover, this work indicated that the modification of heat stability of G6PD from old cells was not due to the enzyme molecule itself but rather to the cell medium.

Aging↗

PubMed1988

Hexose monophosphate shunt enzymes in lung tumors from normal and glucose-6-phosphate-dehydrogenase-deficient subjects.

Glucose-6-phosphate dehydrogenase (G6PD) and 6-phosphogluconate, dehydrogenase the key enzymes of the hexose monophosphate shunt pathway, were measured in both surrounding and tumoral lung tissues from normal and G6PD-deficient subjects. A significant increase of these enzymatic activities in tumoral tissue was found not only in G6PD-normal patients, but also in G6PD-deficient patients with very low or nonmeasurable G6PD activity in both erythrocytes and normal lung tissue.

Adult↗