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

Tanja Pejovic, Daniela Ladner, Marilyn Intengan, Karl Zheng, Tracy Fairchild, Deborah Dillon, Samantha Easley, Dionne Dillon, David Marchetti, Peter Schwartz, Shashikant Lele, Jose Costa, Kunle Odunsi

Research output: Contribution to journalArticlepeer-review

26 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)2519-2524
Number of pages6
JournalEuropean Journal of Cancer
Issue number16
StatePublished - Nov 2004
Externally publishedYes


  • DNA
  • Mitochondria
  • Mutation
  • Uterine cancer

ASJC Scopus subject areas

  • Oncology
  • Cancer Research


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