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

GÜNASTI, BASAK; Tuli, Abdullah

doi:10.17826/cumj.1226150

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

Başak GÜNAŞTI, (Çukurova Üniversitesi, Tıp Fakültesi, Tıbbi Biyokimya Anabilim Dalı, Adana, Türkiye)

Abdullah TULİ (Çukurova Üniversitesi, Tıp Fakültesi, Tıbbi Biyokimya Anabilim Dalı, Adana, Türkiye)

Cukurova Medical Journal

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Yıl: 2023 Cilt: 48 Sayı: 2 Sayfa Aralığı: 351 - 360 Metin Dili: İngilizce DOI: 10.17826/cumj.1226150 İndeks Tarihi: 28-09-2023

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 Kelime: Enzyme Kinetics Gene Expression Glucose-6-phosphate Dehydrogenase Hemolytic Anemia.

G6PD Akdeniz mutasyonu olan hemolitik anemili bireylerde gen ekspresyonlarının karşılaştırılması

Öz:

Amaç: Çalışmamızda, Gd-Akdeniz’li bireylerde hemolitik anemisi olan ve olmayan olguların Glukoz-6-fosfat dehidrogenaz (G6PD) enzimi kinetiği ve G6PD geninin mRNA ekspresyon seviyeleri arasındaki ilişkinin irdelenerek bu duruma açıklık getirmeyi hedefledik. Gereç ve Yöntem: Çalışma grubu, Gd-Akdeniz mutasyonu bulunan 30 olgu ve enzim aktivite düzeyi referans aralığında olan 30 olgudan oluşmaktadır. G6PD aktivitesi Beutler yöntemi ile tayin edilmiştir. G6PD enzimi DE-52 anyon değiştirici reçine ile kısmi olarak saflaştırılarak kinetik özellikleri çalışılmıştır. MboII enzim kesimi ve sekans analizi ile Gd-Akdeniz mutasyonu genotiplendirilmiştir. G6PD geninin ekspresyon seviyesi 2-ΔΔCt formülüne göre hesaplanmıştır. Bulgular: Çalışmamızda Gd-Akdeniz mutasyonu bulunan olguların KmNADP+ ve KmG6P değerleri ile G6PD enzim aktivitesi referans değerlerde olan olgular arasında anlamlı düzeyde fark bulundu. Hemolitik anemisi olan ve olmayan Gd-Akdeniz mutasyonuna sahip olguların ise KmNADP+ ve KmG6P değerleri arasında anlamlı fark bulunamadı. Hemolitik anemisi olmayan 18 hastanın gen ekspresyon sonuçları, hemolitik anemisi olan 12 hastaya göre anlamlı derecede yüksek olduğu görüldü. Ayrıca enzim aktivite düzeyi referans aralığında olan olgularla da bu değişkenler kıyaslandığında yine anlamlı farklılık olduğu belirlendi Sonuç: Gd-Med mutasyonu olan olgularda enzimin substrat bağlanma bölgesinin post-transkripsiyonel veya post-translasyonel modifikasyonlara uğramış olması ve bu nedenle gen ekspresyonunun değişmesi olası bir açıklama olabilir. İleri çalışma olarak Gd-Akdeniz mutasyonuna sahip hemolitik anemisi bulunan olguların gen ekspresyonlarındaki azalmayı geninin promotör bölgesi değerlendirilerek açıklık getirilebilir.

Anahtar Kelime: Enzim Kinetiği Gen Ekspresyonu Glukoz-6-fosfat Dehidrogenaz Hemolitik Anemi

Belge Türü: Makale Makale Türü: Araştırma Makalesi Erişim Türü: Erişime Açık

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APA	GÜNASTI B, Tuli A (2023). Comparison of gene expressions in individuals with G6PD Mediterranean mutation and hemolytic anemia. , 351 - 360. 10.17826/cumj.1226150
Chicago	GÜNASTI BASAK,Tuli Abdullah Comparison of gene expressions in individuals with G6PD Mediterranean mutation and hemolytic anemia. (2023): 351 - 360. 10.17826/cumj.1226150
MLA	GÜNASTI BASAK,Tuli Abdullah Comparison of gene expressions in individuals with G6PD Mediterranean mutation and hemolytic anemia. , 2023, ss.351 - 360. 10.17826/cumj.1226150
AMA	GÜNASTI B,Tuli A Comparison of gene expressions in individuals with G6PD Mediterranean mutation and hemolytic anemia. . 2023; 351 - 360. 10.17826/cumj.1226150
Vancouver	GÜNASTI B,Tuli A Comparison of gene expressions in individuals with G6PD Mediterranean mutation and hemolytic anemia. . 2023; 351 - 360. 10.17826/cumj.1226150
IEEE	GÜNASTI B,Tuli A "Comparison of gene expressions in individuals with G6PD Mediterranean mutation and hemolytic anemia." , ss.351 - 360, 2023. 10.17826/cumj.1226150
ISNAD	GÜNASTI, BASAK - Tuli, Abdullah. "Comparison of gene expressions in individuals with G6PD Mediterranean mutation and hemolytic anemia". (2023), 351-360. https://doi.org/10.17826/cumj.1226150

APA	GÜNASTI B, Tuli A (2023). Comparison of gene expressions in individuals with G6PD Mediterranean mutation and hemolytic anemia. Cukurova Medical Journal, 48(2), 351 - 360. 10.17826/cumj.1226150
Chicago	GÜNASTI BASAK,Tuli Abdullah Comparison of gene expressions in individuals with G6PD Mediterranean mutation and hemolytic anemia. Cukurova Medical Journal 48, no.2 (2023): 351 - 360. 10.17826/cumj.1226150
MLA	GÜNASTI BASAK,Tuli Abdullah Comparison of gene expressions in individuals with G6PD Mediterranean mutation and hemolytic anemia. Cukurova Medical Journal, vol.48, no.2, 2023, ss.351 - 360. 10.17826/cumj.1226150
AMA	GÜNASTI B,Tuli A Comparison of gene expressions in individuals with G6PD Mediterranean mutation and hemolytic anemia. Cukurova Medical Journal. 2023; 48(2): 351 - 360. 10.17826/cumj.1226150
Vancouver	GÜNASTI B,Tuli A Comparison of gene expressions in individuals with G6PD Mediterranean mutation and hemolytic anemia. Cukurova Medical Journal. 2023; 48(2): 351 - 360. 10.17826/cumj.1226150
IEEE	GÜNASTI B,Tuli A "Comparison of gene expressions in individuals with G6PD Mediterranean mutation and hemolytic anemia." Cukurova Medical Journal, 48, ss.351 - 360, 2023. 10.17826/cumj.1226150
ISNAD	GÜNASTI, BASAK - Tuli, Abdullah. "Comparison of gene expressions in individuals with G6PD Mediterranean mutation and hemolytic anemia". Cukurova Medical Journal 48/2 (2023), 351-360. https://doi.org/10.17826/cumj.1226150