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Heteroplasmic Point Mutations of Mitochondrial DNA Affecting Subunit I of Cytochrome c Oxidase in Two Patients With Acquired Idiopathic Sideroblastic Anemia

Heteroplasmic Point Mutations of Mitochondrial DNA Affecting Subunit I of Cytochrome c Oxidase in... Downloaded from http://ashpublications.org/blood/article-pdf/90/12/4961/1413391/4961.pdf by guest on 11 December 2022 Heteroplasmic Point Mutations of Mitochondrial DNA Affecting Subunit I of Cytochrome c Oxidase in Two Patients With Acquired Idiopathic Sideroblastic Anemia By Norbert Gattermann, Stefan Retzlaff, Yan-Ling Wang, Gotz Hofhaus, Jurgen Heinisch, Carlo Aul, ¨ ¨ and Wolfgang Schneider Mitochondrial iron overload in acquired idiopathic sidero- of species. Both mutations are heteroplasmic, ie, they estab- blastic anemia (AISA) may be attributable to mutations of lish a mixture of normal and mutated mitochondrial ge- mitochondrial DNA (mtDNA), because these can cause respi- nomes, which is typical of disorders of mtDNA. The muta- ratory chain dysfunction, thereby impairing reduction of fer- tions were present in bone marrow and whole blood 3" 2" ric iron (Fe ) to ferrous iron (Fe ). The reduced form of iron samples, in isolated platelets, and in granulocytes, but ap- is essential to the last step of mitochondrial heme biosynthe- peared to be absent from T and B lymphocytes purified by sis. It is not yet understood to which part of the respiratory immunomagnetic bead separation. They were not detected chain the reduction of ferric iron is linked. In two patients in buccal mucosa cells obtained by http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Blood Unpaywall

Heteroplasmic Point Mutations of Mitochondrial DNA Affecting Subunit I of Cytochrome c Oxidase in Two Patients With Acquired Idiopathic Sideroblastic Anemia

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References (93)

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Unpaywall
ISSN
0006-4971
DOI
10.1182/blood.v90.12.4961
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Abstract

Downloaded from http://ashpublications.org/blood/article-pdf/90/12/4961/1413391/4961.pdf by guest on 11 December 2022 Heteroplasmic Point Mutations of Mitochondrial DNA Affecting Subunit I of Cytochrome c Oxidase in Two Patients With Acquired Idiopathic Sideroblastic Anemia By Norbert Gattermann, Stefan Retzlaff, Yan-Ling Wang, Gotz Hofhaus, Jurgen Heinisch, Carlo Aul, ¨ ¨ and Wolfgang Schneider Mitochondrial iron overload in acquired idiopathic sidero- of species. Both mutations are heteroplasmic, ie, they estab- blastic anemia (AISA) may be attributable to mutations of lish a mixture of normal and mutated mitochondrial ge- mitochondrial DNA (mtDNA), because these can cause respi- nomes, which is typical of disorders of mtDNA. The muta- ratory chain dysfunction, thereby impairing reduction of fer- tions were present in bone marrow and whole blood 3" 2" ric iron (Fe ) to ferrous iron (Fe ). The reduced form of iron samples, in isolated platelets, and in granulocytes, but ap- is essential to the last step of mitochondrial heme biosynthe- peared to be absent from T and B lymphocytes purified by sis. It is not yet understood to which part of the respiratory immunomagnetic bead separation. They were not detected chain the reduction of ferric iron is linked. In two patients in buccal mucosa cells obtained by

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Blood – Unpaywall

Published: Dec 15, 1997

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