title: Mitochondrial genome microsatellite instability and copy number alteration in lung carcinomas.
abstract: OBJECTIVE
  Mitochondrial DNA (mtDNA) is considered a hotspot of mutations in various tumors. However, the relationship between microsatellite instability (MSI) and mtDNA copy number alterations in lung cancer has yet to be fully clarifieds. In the current study, we investigated the copy number and MSI of mitochondrial genome in lung carcinomas, as well as their significance for cancer development.
  
  
  METHODS
  The copy number and MSI of mtDNA in 37 matched lung carcinoma/adjacent histological normal lung tissue samples were examined by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) assays for sequence variation, followed by sequence analysis and fluorogenic 5'-nuclease real-time PCR. Student's t test and linear regression analyses were employed to analyze the association between mtDNA copy number alterations and mitochondrial MSI (mtMSI).
  
  
  RESULTS
  The mean copy number of mtDNA in lung carcinoma tissue samples was significantly lower than that of the adjacent histologically normal lung tissue samples (p < 0.001). mtMSI was detected in 32.4% (12/37) of lung carcinoma samples. The average copy number of mtDNA in lung carcinoma samples containing mtMSI was significantly lower than that in the other lung carcinoma samples (P < 0.05).
  
  
  CONCLUSIONS
  Results suggest that mtMSI may be an early and important event in the progression of lung carcinogenesis, particularly in association with variation in mtDNA copy number.
authors.affiliation: Department of Thoracic Cardiovascular Surgery of Xinqiao Hospital, the Third Military Medical University, Chongqing, China.
authors.forename: Ji-Gang
authors.initials: JG
authors.lastname: Dai
authors.forename: Zai-Yong
authors.initials: ZY
authors.lastname: Zhang
authors.forename: Quan-Xing
authors.initials: QX
authors.lastname: Liu
authors.forename: Jia-Xin
authors.initials: JX
authors.lastname: Min
mesh_terms: D000230:Adenocarcinoma / Q000235:genetics* / Q000473:pathology; D000328:Adult; D000368:Aged; D002294:Carcinoma, Squamous Cell / Q000235:genetics* / Q000473:pathology; D056915:DNA Copy Number Variations / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D054629:Genome, Mitochondrial; D006801:Humans; D008175:Lung Neoplasms / Q000235:genetics* / Q000473:pathology; D008297:Male; D053842:Microsatellite Instability; D008875:Middle Aged; D009367:Neoplasm Staging; D018807:Polymorphism, Single-Stranded Conformational; D011379:Prognosis; D060888:Real-Time Polymerase Chain Reaction
chemical_list: D004272:DNA, Mitochondrial