Mitochondrial DNA Changes in Genes of Respiratory Complexes III, IV and V Could Be Related to Brain Tumours in Humans

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.

Autorzy

Paulina Kozakiewicz
Paulina Kozakiewicz
Ludmiła Grzybowska-Szatkowska
Ludmiła Grzybowska-Szatkowska
Marzanna Ciesielka
Marzanna Ciesielka
Paulina Całka
Paulina Całka
Jacek Osuchowski
Jacek Osuchowski
Paweł Szmygin
Paweł Szmygin
Bożena Jarosz
Bożena Jarosz
artykuł
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
Angielski
2022
23
20
12131
otwarte czasopismo
CC BY 4.0 Uznanie autorstwa 4.0
ostateczna wersja opublikowana
w momencie opublikowania
2022-10-12
140
5,6
0
0