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Mitochondrial DNA Copy Number Variation Across Human Cancers

Ed Reznik, Martin L. Miller, Yasin Senbabaoglu, Nadeem Riaz, William Lee, Chris Sander
doi: https://doi.org/10.1101/021535
Ed Reznik
1Computational Biology Center, Sloan Kettering Institute, New York NY
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Martin L. Miller
2Cancer Research UK, Cambridge Institute, Cambridge CB2 0RE, UK
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Yasin Senbabaoglu
1Computational Biology Center, Sloan Kettering Institute, New York NY
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Nadeem Riaz
3Department of Radiation Oncology, Memorial Sloan Kettering Cancer Center, New York NY
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William Lee
1Computational Biology Center, Sloan Kettering Institute, New York NY
3Department of Radiation Oncology, Memorial Sloan Kettering Cancer Center, New York NY
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Chris Sander
1Computational Biology Center, Sloan Kettering Institute, New York NY
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Abstract

In cancer, mitochondrial dysfunction, through mutations, deletions, and changes in copy number of mitochondrial DNA (mtDNA), contributes to the malignant transformation and progress of tumors. Here, we report the first large-scale survey of mtDNA copy number variation across 21 distinct solid tumor types, examining over 13,000 tissue samples profiled with next-generation sequencing methods. We find a tendency for cancers, especially of the bladder and kidney, to be significantly depleted of mtDNA, relative to matched normal tissue. We show that mtDNA copy number is correlated to the expression of mitochondrially-localized metabolic pathways, suggesting that mtDNA copy number variation reflect gross changes in mitochondrial metabolic activity. Finally, we identify a subset of tumor-type-specific somatic alterations, including IDH1 and NF1 mutations in gliomas, whose incidence is strongly correlated to mtDNA copy number. Our findings suggest that modulation of mtDNA copy number may play a role in the pathology of cancer.

Footnotes

  • ↵* E-mail: reznike{at}mskcc.org

Copyright 
The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY-NC-ND 4.0 International license.
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Posted June 27, 2015.
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Mitochondrial DNA Copy Number Variation Across Human Cancers
Ed Reznik, Martin L. Miller, Yasin Senbabaoglu, Nadeem Riaz, William Lee, Chris Sander
bioRxiv 021535; doi: https://doi.org/10.1101/021535
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Mitochondrial DNA Copy Number Variation Across Human Cancers
Ed Reznik, Martin L. Miller, Yasin Senbabaoglu, Nadeem Riaz, William Lee, Chris Sander
bioRxiv 021535; doi: https://doi.org/10.1101/021535

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