Comparison of gene expressions in individuals with G6PD Mediterranean mutation and hemolytic anemia
Öz
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.
Anahtar Kelimeler
Enzyme Kinetics, Gene Expression, Glucose-6-phosphate Dehydrogenase, Hemolytic Anemia.
Destekleyen Kurum
Çukurova Üniversitesi Bilimsel Araştırma Projeleri Birimi
Proje Numarası
TF2013YL2
Teşekkür
Çalışmayı TF2013YL2 No’lu proje ile maddi olarak destekleyen Çukurova Üniversitesi Bilimsel Araştırma Projeleri Birimi’ne teşekkür ederim.
Kaynakça
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