{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T21:48:16Z","timestamp":1790459296803,"version":"4.1.0"},"reference-count":10,"publisher":"American Society of Hematology","issue":"4","content-domain":{"domain":["ashpublications.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2004,2,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>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% to 50% 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, PB CD34+ cells selected by immunomagnetic beads harbored the mutation with a proportion of approximately 50%. In hematopoietic colony assays, CD34+ cells from BM and PB yielded only colonies with wild-type 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.<\/jats:p>","DOI":"10.1182\/blood-2003-07-2446","type":"journal-article","created":{"date-parts":[[2003,10,28]],"date-time":"2003-10-28T07:45:28Z","timestamp":1067327128000},"page":"1499-1502","update-policy":"https:\/\/doi.org\/10.1182\/blood.2019cm0000","source":"Crossref","is-referenced-by-count":38,"title":["Ineffective hematopoiesis linked with a mitochondrial tRNA mutation (G3242A) in a patient with myelodysplastic syndrome"],"prefix":"10.1182","volume":"103","author":[{"given":"Norbert","family":"Gattermann","sequence":"first","affiliation":[{"name":"From the Dept of Hematology, Oncology, and Clinical Immunology, and Institute of Biochemistry, Heinrich-Heine-University, Du\u0308sseldorf, Germany."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Wulfert","sequence":"additional","affiliation":[{"name":"From the Dept of Hematology, Oncology, and Clinical Immunology, and Institute of Biochemistry, Heinrich-Heine-University, Du\u0308sseldorf, Germany."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ba\u0308rbel","family":"Junge","sequence":"additional","affiliation":[{"name":"From the Dept of Hematology, Oncology, and Clinical Immunology, and Institute of Biochemistry, Heinrich-Heine-University, Du\u0308sseldorf, Germany."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrich","family":"Germing","sequence":"additional","affiliation":[{"name":"From the Dept of Hematology, Oncology, and Clinical Immunology, and Institute of Biochemistry, Heinrich-Heine-University, Du\u0308sseldorf, Germany."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rainer","family":"Haas","sequence":"additional","affiliation":[{"name":"From the Dept of Hematology, Oncology, and Clinical Immunology, and Institute of Biochemistry, Heinrich-Heine-University, Du\u0308sseldorf, Germany."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Go\u0308tz","family":"Hofhaus","sequence":"additional","affiliation":[{"name":"From the Dept of Hematology, Oncology, and Clinical Immunology, and Institute of Biochemistry, Heinrich-Heine-University, Du\u0308sseldorf, Germany."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"234","reference":[{"key":"2020021223170740800_REF1","doi-asserted-by":"crossref","unstructured":"Gattermann N. From sideroblastic anemia to the role of mitochondrial DNA mutations in myelodysplastic syndromes. Leuk Res. 2000;24: 141-151.","DOI":"10.1016\/S0145-2126(99)00160-5"},{"key":"2020021223170740800_REF2","doi-asserted-by":"crossref","unstructured":"Greenberg PL, Young NS, Gattermann N. Myelodysplastic syndromes. In: Hematology: The American Society of Hematology Education Program Book. Washington, DC: The American Society of Hematology; 2002: 136-161.","DOI":"10.1182\/asheducation-2002.1.136"},{"key":"2020021223170740800_REF3","unstructured":"Goto Y-i, Horai S, Matsuoka T, et al. Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): a correlative study of the clinical features and mitochondrial DNA mutation. Neurology. 1991;42: 545-550."},{"key":"2020021223170740800_REF4","doi-asserted-by":"crossref","unstructured":"Ciafaloni E, Ricci E, Shanske S, et al. MELAS: clinical features, biochemistry, and molecular genetics. 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Blood. 1976;48: 77-85.","DOI":"10.1182\/blood.V48.1.77.77"},{"key":"2020021223170740800_REF8","doi-asserted-by":"crossref","unstructured":"Lange H, Kispal G, Lill R. Mechanism of iron transport to the site of heme synthesis inside yeast mitochondria. J Biol Chem. 1999;274: 18989-18996.","DOI":"10.1074\/jbc.274.27.18989"},{"key":"2020021223170740800_REF9","doi-asserted-by":"crossref","unstructured":"Gattermann N, Retzlaff S, Wang Y-L, et al. A heteroplasmic point mutation of mitochondrial tRNALeu(CUN) in non-lymphoid cell lineages from a patient with acquired idiopathic sideroblastic anaemia. Br J Haematol. 1996;93: 845-855.","DOI":"10.1046\/j.1365-2141.1996.d01-1724.x"},{"key":"2020021223170740800_REF10","doi-asserted-by":"crossref","unstructured":"Gattermann N, Retzlaff S, Wang Y-L, et al. Heteroplasmic point mutations of mitochondrial DNA affecting subunit I of cytochrome c oxidase in two patients with acquired idiopathic sideroblastic anemia. Blood. 1997;90: 4961-4972.","DOI":"10.1182\/blood.V90.12.4961"}],"container-title":["Blood"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/ashpublications.org\/blood\/article-pdf\/103\/4\/1499\/1695400\/zh800404001499.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"http:\/\/ashpublications.org\/blood\/article-pdf\/103\/4\/1499\/1695400\/zh800404001499.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,6,12]],"date-time":"2021-06-12T11:03:37Z","timestamp":1623495817000},"score":1,"resource":{"primary":{"URL":"https:\/\/ashpublications.org\/blood\/article\/103\/4\/1499\/18119\/Ineffective-hematopoiesis-linked-with-a"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,2,15]]},"references-count":10,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2004,2,15]]}},"URL":"https:\/\/doi.org\/10.1182\/blood-2003-07-2446","relation":{},"ISSN":["0006-4971","1528-0020"],"issn-type":[{"value":"0006-4971","type":"print"},{"value":"1528-0020","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,2,15]]}}}