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Reduced mitochondrial DNA copy number in peripheral blood leukocytes increases the risk of soft tissue sarcoma

Hui Xie1, Dina Lev, Yilei Gong

  • 1Department of Epidemiology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.

Carcinogenesis
|January 26, 2013
PubMed

Insights

Reduced mitochondrial DNA (mtDNA) copy number in peripheral blood leukocytes (PBLs) is linked to a higher risk of soft tissue sarcoma (STS). This study suggests mtDNA plays a role in STS development.

Area of Science:

  • Mitochondrial biology
  • Cancer epidemiology
  • Genetics

Background:

  • Mitochondrial DNA (mtDNA) is vulnerable to damage due to its location near reactive oxygen species production and less efficient repair mechanisms compared to nuclear DNA.
  • The association between mitochondrial DNA copy number in peripheral blood leukocytes (PBLs) and soft tissue sarcoma (STS) risk remains unexplored.

Purpose of the Study:

  • To investigate the relationship between relative mitochondrial DNA copy number in PBLs and the risk of developing soft tissue sarcoma.

Main Methods:

  • A case-control study involving 325 STS patients and 330 healthy controls, matched for age, sex, and ethnicity.
  • Quantification of relative mitochondrial DNA copy number in peripheral blood leukocytes using established methods.
  • Statistical analysis, including stratified analyses and dose-response assessments, to evaluate the association between mtDNA copy number and STS risk.

Main Results:

  • Patients with STS exhibited significantly lower mtDNA copy number in PBLs compared to healthy controls (0.93 ± 0.49 vs. 1.23 ± 0.59, P < 0.001).
  • This inverse association persisted across various strata, including sex, ethnicity, and smoking status.
  • Individuals with lower mtDNA copy number showed a substantially increased risk of STS (adjusted OR, 2.71; 95% CI, 1.94-3.82), with a significant dose-response relationship observed.

Conclusions:

  • Reduced mtDNA copy number in PBLs is significantly associated with an elevated risk of soft tissue sarcoma.
  • These findings suggest a potential role for mitochondrial DNA integrity and copy number in the pathogenesis of STS.
  • This study provides the first epidemiological evidence supporting the link between low mtDNA copy number and increased STS risk.

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