| Characterization of complex III deficiency and liver dysfunction in GRACILE syndrome caused by a BCS1L mutation. | |
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MedLine Citation:
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PMID: 20580947 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A homozygous mutation in the complex III chaperone BCS1L causes GRACILE syndrome (intrauterine growth restriction, aminoaciduria, cholestasis, hepatic iron overload, lactacidosis). In control and patient fibroblasts we localized BCS1L in inner mitochondrial membranes. In patient liver, kidney, and heart BCS1L and Rieske protein levels, as well as the amount and activity of complex III, were decreased. Major histopathology was found in kidney and liver with cirrhosis and iron deposition, but of iron-related proteins only ferritin levels were high. In placenta from a GRACILE fetus, the ferrooxidases ceruloplasmin and hephaestin were upregulated suggesting association between iron overload and placental dysfunction. |
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Authors:
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Heike Kotarsky; Riitta Karikoski; Matthias Mörgelin; Sanna Marjavaara; Petra Bergman; De-Liang Zhang; Joél Smet; Rudy van Coster; Vineta Fellman |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't Date: 2010-05-23 |
Journal Detail:
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Title: Mitochondrion Volume: 10 ISSN: 1872-8278 ISO Abbreviation: Mitochondrion Publication Date: 2010 Aug |
Date Detail:
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Created Date: 2010-08-09 Completed Date: 2010-11-23 Revised Date: 2011-01-24 |
Medline Journal Info:
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Nlm Unique ID: 100968751 Medline TA: Mitochondrion Country: Netherlands |
Other Details:
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Languages: eng Pagination: 497-509 Citation Subset: IM |
Copyright Information:
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(c) 2010 Mitochondria Research Society. All rights reserved. |
Affiliation:
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Department of Pediatrics, Clinical Sciences, Lund University, Lund, Sweden. Heike.Kotarsky@med.lu.se |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Ceruloplasmin
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metabolism Congenital Abnormalities / pathology* Electron Transport Complex III / deficiency, metabolism* Female Ferritins / metabolism Histocytochemistry Humans Infant Infant, Newborn Iron / metabolism Kidney / pathology Liver / pathology Liver Diseases* Membrane Proteins / metabolism Myocardium / pathology Placenta / pathology Pregnancy Up-Regulation |
| Chemical | |
Reg. No./Substance:
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0/BCS1L protein, human; 0/HEPH protein, human; 0/Membrane Proteins; 7439-89-6/Iron; 9007-73-2/Ferritins; EC 1.10.2.2/Electron Transport Complex III; EC 1.16.3.1/Ceruloplasmin |
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