| Autor: |
Kozakiewicz P; Department of Radiotherapy, Medical University in Lublin, Chodźki 7, 20-093 Lublin, Poland.; Department of Radiotherapy, The Regional Oncology Centre of Lublin-St. John's Cancer Centre, Jaczewskiego 7, 20-090 Lublin, Poland., Grzybowska-Szatkowska L; Department of Radiotherapy, Medical University in Lublin, Chodźki 7, 20-093 Lublin, Poland., Ciesielka M; Chair and Department of Forensic Medicine, Medical University in Lublin, Jaczewskiego 8b, 20-090 Lublin, Poland., Całka P; Chair and Department of Forensic Medicine, Medical University in Lublin, Jaczewskiego 8b, 20-090 Lublin, Poland., Osuchowski J; Chair and Department of Neurosurgery and Paediatric Neurosurgery, Medical University in Lublin, Jaczewskiego 8, 20-090 Lublin, Poland., Szmygin P; Chair and Department of Neurosurgery and Paediatric Neurosurgery, Medical University in Lublin, Jaczewskiego 8, 20-090 Lublin, Poland., Jarosz B; Chair and Department of Neurosurgery and Paediatric Neurosurgery, Medical University in Lublin, Jaczewskiego 8, 20-090 Lublin, Poland., Ślaska B; Institute of Biological Bases of Animal Production, University of Life Sciences in Lublin, Akademicka 13, 20-950 Lublin, Poland. |
| Abstrakt: |
Mitochondrial DNA changes can contribute to both an increased and decreased likelihood of cancer. This process is complex and not fully understood. Polymorphisms and mutations, especially those of the missense type, can affect mitochondrial functions, particularly if the conservative domain of the protein is concerned. This study aimed to identify the possible relationships between brain gliomas and the occurrence of specific mitochondrial DNA polymorphisms and mutations in respiratory complexes III, IV and V. The investigated material included blood and tumour material collected from 30 Caucasian patients diagnosed with WHO grade II, III or IV glioma. The mitochondrial genetic variants were investigated across the mitochondrial genome using next-generation sequencing (MiSeq/FGx system-Illumina). The study investigated, in silico, the effects of missense mutations on the biochemical properties, structure and functioning of the encoded protein, as well as their potential harmfulness. The A14793G (MTCYB), A15758G, (MT-CYB), A15218G (MT-CYB), G7444A (MT-CO1) polymorphisms, and the T15663C (MT-CYB) and G8959A (ATP6) mutations were assessed in silico as harmful alterations that could be involved in oncogenesis. The G8959A (E145K) ATP6 missense mutation has not been described in the literature so far. In light of these results, further research into the role of mtDNA changes in brain tumours should be conducted. |
