Somatic D-loop mitochondrial DNA mutations are frequent in uterine serous carcinoma

Eur J Cancer. 2004 Nov;40(16):2519-24. doi: 10.1016/j.ejca.2004.07.009.

Abstract

The mitochondria plays a role in apoptosis. Its genome is also more susceptible to mutations because of high levels of reactive oxygen species and limited repair mechanisms. The D-loop of mitochondrial DNA (mtDNA) contains essential transcription and replication elements, and mutations in this region might alter the rate of DNA replication. We examined genetic alterations in the D-loop region of mtDNA in uterine serous carcinoma (USC) samples and their paired normal adjacent endometrium. DNA was extracted after laser-capture microdissection of paraffin-embedded tissues from eight patients with USC. The entire D-loop genome was amplified using nine pairs of overlapping primers. Denatured polymerase chain reaction (PCR) products were subjected to single-strand conformation polymorphism (SSCP) analysis. Somatic mtDNA alterations were detected in five tumours (63%). Our study indicates that mtDNA D-loop sequence alterations occur at a high frequency in USC suggesting that mtDNA mutations may play a role in the development of USC.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Aged
  • Aged, 80 and over
  • DNA Mutational Analysis
  • DNA, Mitochondrial / genetics*
  • Female
  • Humans
  • Middle Aged
  • Mutation / genetics*
  • Polymorphism, Single-Stranded Conformational
  • Uterine Neoplasms / genetics*

Substances

  • DNA, Mitochondrial