International Journal of Hematology and Oncology 2022, Vol 32, Num 2 Page(s): 109-118
Identification of Mitochondrial DNA Gene Mutations in a Turkish Head and Neck Squamous Cancer Patient Group

Pelin MUTLU1, Murad MUTLU2, Serap YALCIN AZARKAN3, Kemal KESEROGLU2, Omer BAYIR2, Guleser SAYLAM2, Mehmet Hakan KORKMAZ4

1Ankara University, Biotechnology Institute, Department of Biotechnology Ankara, TURKEY
2University of Health Sciences, Dışkapı Yıldırım Beyazıt Training and Research Hospital, Department of Otorhinolaryngology, Ankara, TURKEY
3Ahi Evran University, Faculty of Arts and Science, Deparment of Molecular Biology and Genetics, Kirsehir, TURKEY
4Yildirim Beyazit University, Faculty of Medicine, Department of Otorhinolaryngology, Ankara, TURKEY

Keywords: HNSCC, Mitochondrial DNA, CO-1 gene, ND4 gene, Turkish patient group
Besides the variations in genomic DNA, mitochondrial DNA (mtDNA) mutations are also responsible for many diseases, including cancer. MtDNA among individuals from the same and different ethnic groups is highly polymorphic. In the present study, we screened mitochondrial CO-1 and ND4 gene sequences of Turkish head and neck squamous cell carcinoma (HNSCC) patient group and examined the possible relationship between CO-1 and ND4 gene mutations and the development of the disease. Sixty unrelated Turkish HNSCC patients and thirty six unrelated healthy volunteers from different geographic regions of Turkey were included in this study. Total DNA isolation from blood samples were carried out and amplification of CO-1 and ND4 gene regions of mtDNA were performed by PCR reaction. PCR products were purified and sequencing was carried out by Sanger sequencing. Two mutations in CO-1 gene were identified and among them A6272d mutation was found as statistically significant in the studied HNSCC patient group with respect to control group (p< 0.05). Also differences in the alpha helix structure of the protein in patients with mutations were observed. Two mutations (A11251G and T11017TA) in the ND4 gene region were identified, however, none of these mutations were seem to be responsible for the disease development (p>0.05). As a conclusion, for the studied Turkish patient group we showed that A6272d mutation in CO-1 gene can be related to HNSCC development (p< 0.05). However, we cannot detect a statistically significant alteration between patient and control groups for ND4 gene (p>0.05). These differences can be due to ethnic differences.