Document Detail


VWF propeptide and ratios between VWF, VWF propeptide, and FVIII in the characterization of type 1 von Willebrand disease.
MedLine Citation:
PMID:  23349392     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
During posttranslational modifications of von Willebrand factor (VWF), the VWF propeptide (VWFpp) is cleaved. The ratio between VWFpp and VWF antigen (VWF:Ag) and the ratio between factor VIII (FVIII:C) and VWF:Ag may be used to assess synthesis and clearance of VWF. We analyzed the contribution of VWFpp and ratios of VWFpp/VWF:Ag and FVIII:C/VWF:Ag in the pathophysiological characterization of type 1 von Willebrand disease (VWD) in the Molecular and Clinical Markers for the Diagnosis and Management of Type 1 VWD (MCMDM-1VWD) study. The VWFpp/VWF:Ag and FVIII:C/VWF:Ag ratios were increased among patients compared with unaffected family members and healthy controls. The VWFpp/VWF:Ag ratio was higher in individuals heterozygous for missense mutations than in those heterozygous for null alleles. In contrast, the FVIII:C/VWF:Ag ratio was highest among heterozygotes for VWF null alleles. The ratios of VWFpp/VWF:Ag and FVIII:C/VWF:Ag indicate that the pathophysiological mechanisms of type 1 VWD include reduced production and accelerated clearance of VWF, but that often a combination of both mechanisms is implicated.
Authors:
Jeroen Eikenboom; Augusto B Federici; Richard J Dirven; Giancarlo Castaman; Francesco Rodeghiero; Ulrich Budde; Reinhard Schneppenheim; Javier Batlle; Maria Teresa Canciani; Jenny Goudemand; Ian Peake; Anne Goodeve;
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2013-01-24
Journal Detail:
Title:  Blood     Volume:  121     ISSN:  1528-0020     ISO Abbreviation:  Blood     Publication Date:  2013 Mar 
Date Detail:
Created Date:  2013-03-22     Completed Date:  2013-05-16     Revised Date:  2014-09-11    
Medline Journal Info:
Nlm Unique ID:  7603509     Medline TA:  Blood     Country:  United States    
Other Details:
Languages:  eng     Pagination:  2336-9     Citation Subset:  AIM; IM    
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MeSH Terms
Descriptor/Qualifier:
Case-Control Studies
Cohort Studies
Factor VIII / analysis*,  genetics
Family
Genetic Linkage
Heterozygote Detection
Humans
Mutation / physiology
Protein Multimerization
Protein Precursors / blood*,  chemistry,  genetics,  metabolism
Protein Processing, Post-Translational / genetics
von Willebrand Disease, Type 1 / blood*,  diagnosis*,  genetics
von Willebrand Factor / analysis*,  chemistry*,  genetics,  metabolism
Grant Support
ID/Acronym/Agency:
P01 HL044612/HL/NHLBI NIH HHS; P01 HL081588/HL/NHLBI NIH HHS
Chemical
Reg. No./Substance:
0/Protein Precursors; 0/von Willebrand Factor; 9001-27-8/Factor VIII
Investigator
Investigator/Affiliation:
Ian Peake / ; Anne Goodeve / ; Francesco Rodeghiero / ; Giancarlo Castaman / ; Alberto Tosetto / ; Augusto B Federici / ; Javier Batlle / ; Dominique Meyer / ; Edith Fressinaud / ; Claudine Mazurier / ; Jenny Goudemand / ; Jeroen Eikenboom / ; Reinhard Schneppenheim / ; Ulrich Budde / ; Jørgen Ingerslev / ; Zdena Vorlova / ; David Habart / ; Lars Holmberg / ; Stefan Lethagen / ; John Pasi / ; Frank Hill /

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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