Mitochondrial mutations in early stage prostate cancer and bodily fluids

Carmen Jerónimo, Shuji Nomoto, Otávia L. Caballero, Henning Usadel, Rui Henrique, Graça Varzim, Jorge Oliveira, Carlos Lopes, Makiko S. Fliss, David Sidransky

Research output: Contribution to journalArticlepeer-review

196 Scopus citations


We recently demonstrated the existence of specific patterns of somatic mitochondrial DNA (mtDNA) mutations in several cancers. Here we sought to identify the presence of mtDNA mutations in prostate cancer and their paired PIN lesions. The D-loop region, 16S rRNA, and the NADH subunits of complex I were sequenced to identify mtDNA mutations in 16 matched PIN lesions and primary prostate cancers. Twenty mtDNA mutations were detected in the tumor tissue of three patients. Identical mutations were also identified in the PIN lesion from one patient. This patient with multiple point mutations also harbored a high frequency of microsatellite instability (MSI-H) in nuclear mononucleotide repeat markers. Remarkably, identical mutations were also detected in all (3/3) matched urine and plasma samples obtained from these patients. Although mitochondrial mutations are less common in prostate adenocarcinoma, they occur early in cancer progression and they can be detected in bodily fluids of early stage disease patients. The identification of MtDNA mutations may complement other early detection approaches for prostate cancer.

Original languageEnglish (US)
Pages (from-to)5195-5198
Number of pages4
Issue number37
StatePublished - Aug 23 2001


  • Bodily fluids
  • Mitochondrial mutations
  • Prostate cancer
  • Prostate intraepithelial neoplasia

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Cancer Research


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