title: Detection of mitochondrial DNA alterations in the serum of hepatocellular carcinoma patients.
abstract: OBJECTIVE
  Somatic mutations in mitochondrial DNA (mtDNA) have recently been detected in various cancers. These mutations could possibly be detected in serum because mtDNA has a higher copy number than nuclear DNA. Thus, we examined genetic alterations in the D-loop region of mtDNA in hepatocellular carcinoma (HCC) patients.
  
  
  METHODS
  Fifty patients with HCC were investigated in this study. Somatic mutations in the D-loop region of tumor mtDNA were screened by direct sequencing, and then the paired serum samples were investigated using mutation-specific mismatch ligation assay.
  
  
  RESULTS
  Fifteen of 100 sequence variants that were detected in tumor mtDNA have not been recorded previously. True somatic mutations in the D-loop region were detected in 17 of 50 patients (34%). Subsequent screening for paired serum by mismatch ligation assay revealed that 5 of 15 paired serum samples (33%) contained the same mutations as primary tumors.
  
  
  CONCLUSIONS
  mtDNA mutation may be a novel tumor marker of HCC and may prove effective for detection of tumor DNA in the serum.
authors.affiliation: Second Department of Surgery, Nagoya University School of Medicine, Nagoya 466-8550, Japan.
authors.forename: Osamu
authors.initials: O
authors.lastname: Okochi
authors.forename: Kenji
authors.initials: K
authors.lastname: Hibi
authors.forename: Takanori
authors.initials: T
authors.lastname: Uemura
authors.forename: Soichiro
authors.initials: S
authors.lastname: Inoue
authors.forename: Shin
authors.initials: S
authors.lastname: Takeda
authors.forename: Tetsuya
authors.initials: T
authors.lastname: Kaneko
authors.forename: Akimasa
authors.initials: A
authors.lastname: Nakao
mesh_terms: D020137:Base Pair Mismatch; D014408:Biomarkers, Tumor / Q000097:blood*; D006528:Carcinoma, Hepatocellular / Q000097:blood* / Q000235:genetics; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000097:blood* / Q000235:genetics; D006801:Humans; D008113:Liver Neoplasms / Q000097:blood* / Q000235:genetics; D009154:Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D017422:Sequence Analysis, DNA
chemical_list: D014408:Biomarkers, Tumor; D004272:DNA, Mitochondrial