| Influence of homozygosity for methionine at codon 129 of the human prion gene on the onset of neurological and hepatic symptoms in Wilson disease. | |
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MedLine Citation:
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PMID: 16831968 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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BACKGROUND: The clinical heterogeneity of Wilson disease expression cannot be fully explained by the various mutations of the Wilson disease gene. The prion-related protein (PrP) has been shown to bind copper in vitro and might therefore influence Wilson disease. OBJECTIVE: To examine the effect of the PrP polymorphism at codon 129, resulting in either methionine or valine (M129V), on the clinical phenotype of patients with Wilson disease. DESIGN AND SETTING: Retrospective cross-sectional study at a university hospital. PARTICIPANTS: A total of 134 patients were grouped according to their PrP M129V genotypes and initial clinical symptoms (hepatic vs neurological). RESULTS: The onset of symptoms was significantly delayed in patients homozygous for the 129M allele as compared with patients with at least 1 V allele (mean +/- SD age, 20.90 +/- 11.9 years vs 15.5 +/- 7.6 years; P = .003). No significant correlation was found when analyzing the impact of the PrP M129V genotype on the clinical symptoms at initial manifestation (hepatic vs neurological; P = .44). CONCLUSION: This study shows for the first time, to our knowledge, that the human PrP polymorphism M129V influences the onset of symptoms in patients with the copper storage disorder Wilson disease. |
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Authors:
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Uta Merle; Wolfgang Stremmel; Reinhard Gessner |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Archives of neurology Volume: 63 ISSN: 0003-9942 ISO Abbreviation: Arch. Neurol. Publication Date: 2006 Jul |
Date Detail:
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Created Date: 2006-07-11 Completed Date: 2006-08-07 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 0372436 Medline TA: Arch Neurol Country: United States |
Other Details:
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Languages: eng Pagination: 982-5 Citation Subset: AIM; IM |
Affiliation:
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Department of Gastroenterology and Hepatology, University Hospital, Heidelberg, Germany. uta_merle@med.uni-heidelberg.de |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Age of Onset Apolipoprotein E3 Apolipoproteins E / genetics Codon Copper / metabolism Cross-Sectional Studies Female Genotype Hepatolenticular Degeneration / complications, genetics*, metabolism Homozygote Humans Liver Diseases / etiology, genetics, metabolism Male Methionine / genetics Nervous System Diseases / etiology, genetics, metabolism Polymorphism, Genetic Prions / genetics*, metabolism Retrospective Studies |
| Chemical | |
Reg. No./Substance:
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0/Apolipoprotein E3; 0/Apolipoproteins E; 0/Codon; 0/Prions; 63-68-3/Methionine; 7440-50-8/Copper |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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