Clonal expansion of mutated mitochondrial DNA is associated with tumor formation and complex I deficiency in the benign renal oncocytoma.

@article{Gasparre2008ClonalEO,
  title={Clonal expansion of mutated mitochondrial DNA is associated with tumor formation and complex I deficiency in the benign renal oncocytoma.},
  author={G. Gasparre and E. Hervouet and Elodie de Laplanche and J. Demont and Lucia Fiammetta Pennisi and M. Colombel and F. Mege-Lechevallier and J. Scoazec and E. Bonora and R. Smeets and J. Smeitink and V. Lazar and J. Lespinasse and S. Giraud and C. Godinot and G. Romeo and H. Simonnet},
  journal={Human molecular genetics},
  year={2008},
  volume={17 7},
  pages={
          986-95
        }
}
Mutations in mitochondrial DNA (mtDNA) are frequent in cancers but it is not yet clearly established whether they are modifier events involved in cancer progression or whether they are a consequence of tumorigenesis. Here we show a benign tumor type in which mtDNA mutations that lead to complex I (CI) enzyme deficiency are found in all tumors and are the only genetic alteration detected. Actually renal oncocytomas are homogeneous tumors characterized by dense accumulation of mitochondria and we… Expand
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