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.
Highlights
Material and MethodsMitochondria are cytoplasmic organelles that play a role in the regulation of many important physiological processes in the cell
It has been reported in the literature that sequence variants of mitochondrial NADH dehydrogenase, Cytochrome b, Cytochrome C Oxidase I, 12S rRNA, Cytochrome C Oxidase II and tRNA genes can affect the oxidative phosphorylation system (OXPHOS) process, cause an increase in reactive oxygen species (ROS) production and eventually initiate carcinogenesis [5,6,7,8]
We aimed to examine 13 single nucleotide polymorphism (SNP) of these six genes from the Mitochondrial DNA (mtDNA) of patients diagnosed with hematological malignancy using the Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) method and to investigate the possible importance of these SNPs in cancer etiopathogenesis
Summary
Mitochondria are cytoplasmic organelles that play a role in the regulation of many important physiological processes in the cell. The mechanism underlying the relationship between specific mtDNA SNPs and malignancy susceptibility is still unclear [4]. It has been reported in the literature that sequence variants of mitochondrial NADH dehydrogenase, Cytochrome b, Cytochrome C Oxidase I, 12S rRNA, Cytochrome C Oxidase II and tRNA genes can affect the OXPHOS process, cause an increase in ROS production and eventually initiate carcinogenesis [5,6,7,8]
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