title: Novel mutations in cholangiocarcinoma with low frequencies revealed by whole mitochondrial genome sequencing.
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.
  
  
  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.
authors.affiliation: Department of Biochemistry, Faculty of Medicine, Khon Kaen University, Khon Kaen, Thailand E-mail : chaisiri@kku.ac.th.
authors.forename: Kanha
authors.initials: K
authors.lastname: Muisuk
authors.forename: Atit
authors.initials: A
authors.lastname: Silsirivanit
authors.forename: Kanokwan
authors.initials: K
authors.lastname: Imtawil
authors.forename: Suphawadee
authors.initials: S
authors.lastname: Bunthot
authors.forename: Ake
authors.initials: A
authors.lastname: Pukhem
authors.forename: Chawalit
authors.initials: C
authors.lastname: Pairojkul
authors.forename: Sopit
authors.initials: S
authors.lastname: Wongkham
authors.forename: Chaisiri
authors.initials: C
authors.lastname: Wongkham
mesh_terms: D000328:Adult; D000368:Aged; D001483:Base Sequence; D001650:Bile Duct Neoplasms / Q000235:genetics*; D001653:Bile Ducts, Intrahepatic / Q000473:pathology; D018281:Cholangiocarcinoma / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics*; D004273:DNA, Neoplasm / Q000235:genetics*; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D054629:Genome, Mitochondrial; D006801:Humans; D008297:Male; D008875:Middle Aged; D008928:Mitochondria / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D017422:Sequence Analysis, DNA; D055815:Young Adult
chemical_list: D004272:DNA, Mitochondrial; D004273:DNA, Neoplasm