Investigation of mitochondrial DNA polymorphisms in patients with hematological malignancy

Year 2021, Volume: 12 Issue: 2, 147 - 154, 30.06.2021

Neslihan Duzkale , Çiğdem Yüce Kahraman , İlhami Kiki Rahşan Yıldırım , Gülden Sincan , Abdulgani Tatar

https://doi.org/10.18663/tjcl.907688

Abstract

Aim: Mitochondrial DNA (mtDNA) polymorphisms can be considered as a molecular marker in susceptibility to various types of cancer. In this study, we aimed to investigate the potential relationship of mtDNA polymorphisms with disease etiopathogenesis in patients with hematological malignancy.
Material and Methods: This study was carried out with the participation of 80 patients diagnosed with hematological malignancy and 80 healthy individuals in the Department of Medical Genetics, Atatürk University. In all participants, 13 polymorphism regions of 6 coding genes of mtDNA were investigated by Polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) method. SNPs evaluated in the study; NADH dehydrogenase subunit 5-13704 (C/T), Cytochrome b 15315 (C/T), 12S rRNA 740 (G/A) and 680 (T/C), Cytochrome C Oxidase I 7319 (T/C), -7444 (G/A), Cytochrome C Oxidase II 8252 (C/G), 7660 (G/A), 7975 (A/G), 8014 (A/G), 8113 (C/A), 8152 (G/A) and tRNA lysine 8310 (T/C) were identified as.
Results: ND-5 13704 (C>T) polymorphism was statistically significant in patients with hematological malignancies compared to healthy controls (p = 0.001). There was no significant difference between patients and controls in other evaluated polymorphisms.
Conclusion: Although the findings obtained from this study suggest that mtDNA ND-5 13704 (C>T) polymorphism may play a role in the etiopathogenesis of hematological malignancies, large-scale studies are needed to determine the importance of this polymorphic region.

Keywords

Hematologic malignancy, Mitochondrial DNA, Polymorphism, NADH dehydrogenase

Supporting Institution

Ataturk University Scientific Research Project

Project Number

(2009/305)

Hematolojik maligniteli hastalarda mitokondriyal DNA polimorfizmlerinin araştırılması

Abstract

Amaç: Mitokondriyal DNA (mtDNA) polimorfizmleri, çeşitli kanser türlerine duyarlılıkta moleküler bir belirteç olarak düşünülebilir. Bu çalışmada, hematolojik malignite tanılı hastalarda mtDNA polimorfizmlerinin hastalık etyopatogenezi ile muhtemel ilişkisini araştırmayı amaçladık.
Gereç ve Yöntemler: Bu çalışma Atatürk Üniversitesi Tıbbi Genetik Anabilim Dalı'nda hematolojik malignite tanısı almış 80 hasta ve 80 sağlıklı bireyin katılımıyla gerçekleştirildi. Tüm katılımcılarda, mtDNA'nın 6 kodlama genindeki 13 polimorfizm bölgesi, PCR-RFLP yöntemi ile araştırıldı. Çalışmada değerlendirilen SNP'ler; NADH dehidrojenaz alt birimi 5-13704 (C / T), Sitokrom b 15315 (C / T), 12S rRNA 740 (G / A) ve 680 (T / C), Sitokrom C Oksidaz I 7319 (T / C), -7444 (G / A), Sitokrom C Oksidaz II 8252 (C / G), 7660 (G / A), 7975 (A / G), 8014 (A / G), 8113 (C / A), 8152 (G / A ) ve tRNA lizin 8310 (T / C) olarak tanımlandı.
Bulgular: ND-5 13704 (C> T) polimorfizmi, hematolojik maligniteli hastalarda sağlıklı kontrollere göre istatistiksel olarak anlamlı bulundu (p=0,001). Değerlendirilen diğer polimorfizmlerde hastalar ve kontroller arasında anlamlı bir fark yoktu.
Sonuç: Bu çalışmadan elde edilen bulgular, mtDNA ND-5 13704 (C>T) polimorfizminin, hematolojik malignitelerin etiyopatogenezinde rol oynayabileceğini düşündürtse de, bu polimorfik bölgenin önemini belirlemek için büyük ölçekli çalışmalara ihtiyaç vardır

Keywords

Hematolojik malignite, Mitokondriyal DNA, Polimorfizm, NADH dehidrojenaz

Project Number

(2009/305)

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