| Overexpression of an unstable intrinsic factor-cobalamin receptor in Imerslund-Gräsbeck syndrome. | |
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MedLine Citation:
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PMID: 9649473 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Two sisters with Imerslund-Gräsbeck syndrome who presented with clinical features of cobalamin deficiency are described. Intrinsic factor-cobalamin receptor (IFCR) activity and protein levels were determined in ileal biopsy specimens by using radioisotope assay and immunoblotting, respectively. IFCR activities in ileal homogenates expressed as femtomoles of ligand binding per milligram of protein were 38 +/- 4 in control tissue, 494 +/- 24 in patient 1, and 94 +/- 7 in patient 2. However, when assayed in the presence of IFCR antiserum, the ligand binding was inhibited by > 90% in both normal control and the patients with Imerslund-Gräsbeck syndrome. Immunoblotting of total membranes from the biopsy specimen of these 2 patients failed to detect an immunoreactive band of molecular mass of 185 kilodaltons. These findings are at variance with reports of decreased IFCR activity and indicate a new phenotype in which an active but an unstable receptor is overexpressed in Imerslund-Gräsbeck syndrome. |
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Authors:
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D M Eaton; J H Livingston; B Seetharam; J W Puntis |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, U.S. Gov't, Non-P.H.S. |
Journal Detail:
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Title: Gastroenterology Volume: 115 ISSN: 0016-5085 ISO Abbreviation: Gastroenterology Publication Date: 1998 Jul |
Date Detail:
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Created Date: 1998-07-23 Completed Date: 1998-07-23 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 0374630 Medline TA: Gastroenterology Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 173-6 Citation Subset: AIM; IM |
Affiliation:
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Division of Pediatrics and Child Health, University of Leeds, General Infirmary, England. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Child Female Humans Ileum / metabolism Malabsorption Syndromes / metabolism* Phenotype Receptors, Cell Surface / biosynthesis* Vitamin B 12 / metabolism* Vitamin B 12 Deficiency / etiology* |
| Chemical | |
Reg. No./Substance:
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0/Receptors, Cell Surface; 0/intrinsic factor-cobalamin receptor; 68-19-9/Vitamin B 12 |
| Comments/Corrections | |
Comment In:
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Gastroenterology. 1999 May;116(5):1274-6
[PMID:
10220529
]
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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