Comparison of gene expressions in individuals with G6PD Mediterranean mutation and hemolytic anemia

Abstract

Purpose: In our study, we aimed to clarify the relationship between Glucose-6-phosphate dehydrogenase (G6PD) enzyme kinetics and mRNA expression levels of the G6PD gene in Gd-Med patients with and without hemolytic anemia. Materials and Methods: The study group consisted of 30 cases with Gd-Med mutation and 30 cases with enzyme activity levels in the reference range. G6PD activity was determined by the Beutler method. G6PD enzyme was partially purified with DE-52 anion exchange resin, and its kinetic parameters were studied. Gd-Med mutation was genotyped by MboII enzyme digest and sequence analysis. The expression level of the G6PD gene was calculated according to the 2-ΔΔCt formula. Results: In our study, a significant difference was found between the KmNADP+ and KmG6P values of the cases with Gd-Med mutation and the control group. There was no significant difference between KmNADP+ and KmG6P values in Gd-Med mutated patients with and without hemolytic anemia. Gene expression results of 18 patients without hemolytic anemia were significantly higher than 12 patients with hemolytic anemia. In addition, there was a significant difference between these variables and the control group. Conclusion: It might be a possible explanation that the substrate binding site of the enzyme in cases with Gd-Med mutation may have undergone post-transcriptional or post-translational modifications, and therefore gene expression might be changed. As a further study, the decrease in gene expressions of patients with hemolytic anemia with Gd-Med mutation can be clarified by evaluating the promoter side of the gene.