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Somatic mitochondrial DNA mutations in adult-onset leukaemia

Lookup NU author(s): Anna Lewall, Dr Liewi Luo, Professor Stephen Proctor, Dr Peter Middleton, Professor Robert Taylor, Emeritus Professor Doug Turnbull


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Mitochondrial genome instability has recently been demonstrated in a wide variety of human tumours and is implicated in the development of the myslodysplastic 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.

Publication metadata

Author(s): He, L., Luo, L., Proctor, S. J., Middleton, P. G., Blakely, E. L., Taylor, R. W., Turnbull, D. M.

Publication type: Article

Publication status: Published

Journal: Leukemia

Year: 2003

Volume: 17

Issue: 12

Pages: 2487-2491

Print publication date: 01/12/2003

ISSN (print): 0887-6924

ISSN (electronic): 1476-5551


DOI: 10.1038/sj.leu.2403146

PubMed id: 14523470


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