Comparison of gene expressions in subjects with G6Pd activity below the reference values

Glucose 6-phosphate dehydrogenase is the key enzyme which catalyzes first step of pentose phosphate metabolic pathway. Unique source of NADPH in erythrocyte is the pentose phosphate metabolic pathway and synthesis of NADPH decreases in G6PD deficiency. The deficiency of G6PD deficiency may result in hemolytic anemia due to drug toxicities, infections during the neonatal period, consumption of beans and stress conditions. Reported that if exposed to these conditions, while some case has been affected, some of which has not been affected. In order to clarify this situation G6PD enzyme kinetics were studied from cases G6PD activity below the reference values. The aim of this study was to evaluate the relationship between G6PD gene expression and G6PD enzyme kinetics parameters and genotype. Ten cases (7 male and 3 female) of low or null G6PD enzyme activity were enrolled in this study. Enzyme activity was determined with the Beutler method. G6PD was partially purified DE-52 anion exchange resin and then enzyme kinetics were studied. G6PD Mediterranean mutation was genotyped by sequencing analysis and MboII restriction enzyme. G6PD gene expression levels were analyzed by using the 2-ΔΔCt formula. Variables were evaluated by correlation test. In this study G6PD Mediterranean mutation were identified in 4 cases two of hemizygote and two of heterozygote. We evaluated relationship of G6PD gene expression with other variables. There was statistically significant high positive correlation with G6PD gene expression levels and KmNADP, statistically significant moderate positive correlation with G6PD gene expression levels and KmG6P. This case is suggested to have different specifications in the substrate binding site as a result of post-translational or post-transcriptional modifications.