Identification of Mitochondrial DNA Gene Mutations in a Turkish Head and Neck Squamous Cancer Patient Group

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MUTLU P., Mutlu M., Yalcin Azarkan S., Keseroglu K., Bayir O., Saylam G., ...More

UHOD - Uluslararasi Hematoloji-Onkoloji Dergisi, vol.32, no.2, pp.109-118, 2022 (SCI-Expanded) identifier

  • Publication Type: Article / Article
  • Volume: 32 Issue: 2
  • Publication Date: 2022
  • Doi Number: 10.4999/uhod.226394
  • Journal Name: UHOD - Uluslararasi Hematoloji-Onkoloji Dergisi
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, EMBASE
  • Page Numbers: pp.109-118
  • Keywords: CO-1 gene, HNSCC, Mitochondrial DNA, ND4 gene, Turkish patient group
  • Ankara Yıldırım Beyazıt University Affiliated: Yes


© 2022, UHOD - Uluslararasi Hematoloji Onkoloji Dergisi. All rights reserved.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.