Heteroplasmic mitochondrial DNA mutations in normal and tumour cells

Yiping He, Jian Wu, Devin C. Dressman, Christine Iacobuzio-Donahue, Sanford D. Markowitz, Victor E. Velculescu, Luis A. Diaz, Kenneth W. Kinzler, Bert Vogelstein () and Nickolas Papadopoulos ()
Additional contact information
Yiping He: The Ludwig Center for Cancer Genetics and Therapeutics and The Howard Hughes Medical Institute at The Johns Hopkins Kimmel Cancer Center, Baltimore, Maryland 21231, USA
Jian Wu: The Ludwig Center for Cancer Genetics and Therapeutics and The Howard Hughes Medical Institute at The Johns Hopkins Kimmel Cancer Center, Baltimore, Maryland 21231, USA
Devin C. Dressman: The Ludwig Center for Cancer Genetics and Therapeutics and The Howard Hughes Medical Institute at The Johns Hopkins Kimmel Cancer Center, Baltimore, Maryland 21231, USA
Christine Iacobuzio-Donahue: Johns Hopkins Medical Institutions, Baltimore, Maryland 21231, USA
Sanford D. Markowitz: and Ireland Cancer Center, at Case Western Reserve University and Case Medical Center of University Hospitals of Cleveland, and The Howard Hughes Medical Institute, Cleveland, Ohio 44106, USA
Victor E. Velculescu: The Ludwig Center for Cancer Genetics and Therapeutics and The Howard Hughes Medical Institute at The Johns Hopkins Kimmel Cancer Center, Baltimore, Maryland 21231, USA
Luis A. Diaz: The Ludwig Center for Cancer Genetics and Therapeutics and The Howard Hughes Medical Institute at The Johns Hopkins Kimmel Cancer Center, Baltimore, Maryland 21231, USA
Kenneth W. Kinzler: The Ludwig Center for Cancer Genetics and Therapeutics and The Howard Hughes Medical Institute at The Johns Hopkins Kimmel Cancer Center, Baltimore, Maryland 21231, USA
Bert Vogelstein: The Ludwig Center for Cancer Genetics and Therapeutics and The Howard Hughes Medical Institute at The Johns Hopkins Kimmel Cancer Center, Baltimore, Maryland 21231, USA
Nickolas Papadopoulos: The Ludwig Center for Cancer Genetics and Therapeutics and The Howard Hughes Medical Institute at The Johns Hopkins Kimmel Cancer Center, Baltimore, Maryland 21231, USA

Nature, 2010, vol. 464, issue 7288, 610-614

Abstract: Heterogeneity in mitochondrial DNA With the help of massively parallel sequencing-by-synthesis of mitochondrial DNA (mtDNA) genomes, He et al. uncover widespread heterogeneity (heteroplasmy) in the mtDNA of normal human cells and homoplasmic and heteroplasmic mutations in cancer cells. The frequency of heteroplasmy is shown to vary among tissues of the same individual. Together, these findings provide new insights into the nature and variability of mtDNA sequences and have implications for cancer biomarker development and forensic analysis.

Date: 2010
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DOI: 10.1038/nature08802

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