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Leukemogenomics

Somatic mitochondrial DNA mutations in adult-onset leukaemia

Leukemia volume 17, pages 2487–2491 (2003)Cite this article

Abstract

Mitochondrial genome instability has recently been demonstrated in a wide variety of human tumours and is implicated in the development of the myelodysplastic syndromes, a heterogeneous group of haematological disorders with an increased risk of malignant transformation. We therefore investigated the incidence of somatic mitochondrial DNA (mtDNA) mutations in patients with adult-onset leukaemia. We sequenced the entire mitochondrial genome from both normal tissue (buccal epithelial cells) and the leukaemia from 24 patients with adult-onset leukaemia. Somatic mtDNA mutation was present in nine individuals (≈40%) and in each case the tumour genome differed from the normal genome sequence by a single sequence change. Using PCR-RFLP analysis and real-time PCR, we have studied in detail the mutation present in one patient with acute lymphatic leukaemia, demonstrating that the mutation is associated specifically with the leukaemia.

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Acknowledgements

We thank Steve O'Brien, Sue Miller and Triff Mainou-Fowler for help in accessing chronic leukaemia samples, and Geoff Taylor for his help with the mtDNA sequencing. This work was supported by a grant (to DMT, RWT, PGM and SJP) from the Leukaemia Research Fund, UK.

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Authors and Affiliations

  1. Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, University of Newcastle upon Tyne, UK

    L He, L Luo, E L Blakely, R W Taylor & D M Turnbull

  2. Department of Academic Haematology, The Medical School, University of Newcastle upon Tyne, UK

    S J Proctor & P G Middleton

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  1. L He
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  2. L Luo
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He, L., Luo, L., Proctor, S. et al. Somatic mitochondrial DNA mutations in adult-onset leukaemia. Leukemia 17, 2487–2491 (2003). https://doi.org/10.1038/sj.leu.2403146

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