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Blood, 15 February 2004, Vol. 103, No. 4, pp. 1499-1502. Prepublished online as a Blood First Edition Paper on October 23, 2003; DOI 10.1182/blood-2003-07-2446. This Article Full Text (PDF) All Versions of this Article: 2003-07-2446v1 103/4/1499    most recent Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Gattermann, N. Articles by Hofhaus, G. Search for Related Content PubMed PubMed Citation Articles by Gattermann, N. Articles by Hofhaus, G. Related Collections Related Article in Blood Online Social Bookmarking                   What's this? Submitted July 21, 2003 Accepted September 24, 2003 Ineffective hematopoiesis linked with a mitochondrial tRNA mutation (G3242A) in a patient with myelodysplastic syndrome Norbert Gattermann*, Michael Wulfert, Baerbel Junge, Ulrich Germing, Rainer Haas, and Goetz Hofhaus Haematology, Oncology and Clinical Immunology, Heinrich-Heine-University, Duesseldorf, NRW, Germany Institute of Biochemistry, Heinrich-Heine-University, Duesseldorf, NRW, Germany * Corresponding author; email: gattermann{at}med.uni-duesseldorf.de. In a patient with refractory anemia with excess blasts (RAEB), a somatic mutation of mitochondrial transfer RNALeu(UUR) was detected in bone marrow cells. Heteroduplex analysis indicated that 40-50 percent of mitochondrial DNA (mtDNA) molecules in the bone marrow (BM) carried the novel G3242A mutation. The proportion of mutant mtDNA was higher in CD34+ cells than in the unfractionated sample. Surprisingly, the mutation was not detectable by heteroduplex analysis in the peripheral blood (PB). However, peripheral blood CD34+ cells selected by immunomagnetic beads harboured the mutation with a proportion of approximately 50%. In hematopoietic colony assays, CD34+ cells from BM and PB yielded only colonies with wildtype mtDNA. These results indicate that the mtDNA mutation in CD34+ cells was associated with a maturation defect. Mitochondrial tRNA mutations impair mitochondrial protein synthesis, thereby causing dysfunction of the mitochondrial respiratory chain. We propose that this effect contributed to ineffective hematopoiesis in our patient. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? Related Article in Blood Online: The myelodysplastic syndromes: heterogeneneity on many levels Peter T. Curtin Blood 2004 103: 1181-1182. [Full Text] [PDF] This article has been cited by other articles: M. L. Chen, T. D. Logan, M. L. Hochberg, S. G. Shelat, X. Yu, G. E. Wilding, W. Tan, G. C. Kujoth, T. A. Prolla, M. A. Selak, et al. Erythroid dysplasia, megaloblastic anemia, and impaired lymphopoiesis arising from mitochondrial dysfunction Blood, November 5, 2009; 114(19): 4045 - 4053. [Abstract] [Full Text] [PDF] E. Hellstrom-Lindberg and M. Cazzola The Role of JAK2 Mutations in RARS and Other MDS Hematology, January 1, 2008; 2008(1): 52 - 59. [Abstract] [Full Text] [PDF] D. P. Steensma and A. F. List Genetic Testing in the Myelodysplastic Syndromes: Molecular Insights Into Hematologic Diversity Mayo Clin. Proc., May 1, 2005; 80(5): 681 - 698. [Abstract] [PDF]

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