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MtDNA mutation associated with mitochondrial dysfunction in megakaryoblastic leukaemic cells

Leukemia volume 22, pages 1938–1941 (2008)Cite this article

Mitochondrial dysfunction in blood malignancies has been recently described and its involvement in tumorigenesis suggested. Association of mutations in mitochondrial DNA (mtDNA) and acute myeloid leukaemias (AMLs) has been warranting consideration because of recent reports showing the occurrence of somatic mtDNA mutations in a significant number of cases within cohorts of AML patients.1, 2 The direct implication of mtDNA mutations in the pathogenesis of AMLs is still debated,3 however, understanding the impact of mitochondrial dysfunction along with other cellular alterations might be of prognostic interest.3 Acute megakaryoblastic leukaemia (AMegL) is a rare type of AML with severe prognosis4 the incidence of which increases in Down's syndrome patients.

Two-dimensional blue native/SDS PAGE analysis of proteins extracted from the inner mitochondrial membranes was performed to assess the subunit composition of the mitochondrial oxidative phosphorylation (OXPHOS) complexes (I–V). Compared with HSPCs, the AMegL cells revealed (i) quantitative decrease of the OXPHOS complexes-constituting subunits, (ii) the presence of not yet identified polypeptides and (iii) altered polypeptide ‘spottings’, indicative of changes in the assembly/biogenesis of the complexes (See Supplementary Figure 1).

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Acknowledgements

This work was supported by: University of Foggia—Local Research Funds 2006; Foundation of Cassa di Risparmio di Puglia—Project: Safeguard of Human Health, 2006.

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  1. A Tabilio and N Capitanio: These authors contributed equally to the work

Authors and Affiliations

  1. Department of Biomedical Science, University of Foggia, Foggia, Italy

    C Piccoli, M Ripoli, R Scrima, D Boffoli & N Capitanio

  2. CSS Hospital, IRCCS, San Giovanni Rotondo, Italy

    P Stanziale & M Carella

  3. Department of Clinical and Experimental Medicine, University of Perugia, Perugia, Italy

    M Di Ianni & L Moretti

  4. Todi Hospital, Todi, Italy

    B Biscottini

  5. Department of Internal Medicine and Public Health, University of L’Aquila, L’Aquila, Italy

    A Tabilio

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  1. C Piccoli
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Correspondence to N Capitanio.

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Supplementary Information accompanies the paper on the Leukemia website (http://www.nature.com/leu)

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Piccoli, C., Ripoli, M., Scrima, R. et al. MtDNA mutation associated with mitochondrial dysfunction in megakaryoblastic leukaemic cells. Leukemia 22, 1938–1941 (2008). https://doi.org/10.1038/leu.2008.69

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