Asian Pacific Journal of Cancer Prevention

Asian Pacific Journal of Cancer Prevention (아시아태평양암예방학회)
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Novel Mutations in Cholangiocarcinoma with Low Frequencies Revealed by Whole Mitochondrial Genome Sequencing

  • Muisuk, Kanha (Department of Biochemistry, Faculty of Medicine, Khon Kaen University) ;
  • Silsirivanit, Atit (Department of Biochemistry, Faculty of Medicine, Khon Kaen University) ;
  • Imtawil, Kanokwan (Department of Biochemistry, Faculty of Medicine, Khon Kaen University) ;
  • Bunthot, Suphawadee (Department of Biochemistry, Faculty of Medicine, Khon Kaen University) ;
  • Pukhem, Ake (Liver Fluke and Cholangiocarcinoma Research Center, Faculty of Medicine, Khon Kaen University) ;
  • Pairojkul, Chawalit (Liver Fluke and Cholangiocarcinoma Research Center, Faculty of Medicine, Khon Kaen University) ;
  • Wongkham, Sopit (Department of Biochemistry, Faculty of Medicine, Khon Kaen University) ;
  • Wongkham, Chaisiri (Department of Biochemistry, Faculty of Medicine, Khon Kaen University)
  • Published : 2015.03.18
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Abstract

Background: Mitochondrial DNA (mtDNA) mutations have been shown to be associated with cancer. This study explored whether mtDNA mutations enhance cholangiocarcinoma (CCA) development in individuals. Materials and Methods: The whole mitochondrial genome sequences of 25 CCA patient tissues were determined and compared to those of white blood cells from the corresponding individuals and 12 healthy controls. The mitochondrial genome was amplified using primers from Mitoseq and compared with the Cambridge Reference Sequence. Results: A total of 161 mutations were identified in CCA tissues and the corresponding white blood cells, indicating germline origins. Sixty-five (40%) were new. Nine mutations, representing those most frequently observed in CCA were tested on the larger cohort of 60 CCA patients and 55 controls. Similar occurrence frequencies were observed in both groups. Conclusions: While the correspondence between the cancer and mitochondrial genome mutation was low, it is of interest to explore the functions of the missense mutations in a larger cohort, given the possibility of targeting mitochondria for cancer markers and therapy in the future.

Keywords

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