Document Detail


Circulating matrix gla protein (mgp) species are refractory to vitamin k treatment in a new case of keutel syndrome.
MedLine Citation:
PMID:  21435166     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
Background and objectives: Matrix γ-carboxyglutamate protein (MGP), a vitamin K-dependent protein, is recognised as a potent local inhibitor of vascular calcification. Studying patients with Keutel syndrome (KS), a rare autosomal recessive disorder resulting from MGP mutations, provides an opportunity to investigate the functions of MGP. Results: We describe a novel homozygous MGP mutation (c.61+1G>A) in a newly identified KS patient, of whom the phenotype was carefully characterised. No signs of arterial calcification were found, in contrast to findings in MGP knockout mice that die within two months due to arterial calcification. This patient is the first in whom circulating MGP species were characterised, which revealed a high level of phosphorylated MGP and a low level of carboxylated MGP. Contrary to expectations, vitamin K supplements did not improve the circulating carboxylated MGP levels. In addition, we characterised MGP species in various affected tissues of the first KS patient originally described in 1971. Phosphorylated MGP was also found to be present in this patient. Conclusions: The investigation of the phenotype and MGP species in the circulation and tissues of KS patients contributes to our understanding of MGP functions in various tissues and to further elucidation of the difference in arterial phenotype between MGP-deficient mice and humans.
Authors:
E C M Cranenburg; K Y van Spaendonck-Zwarts; L Bonafe; L Mittaz Crettol; L A Rödiger; F G Dikkers; A J van Essen; A Superti-Furga; E Alexandrakis; C Vermeer; L J Schurgers; G D Laverman
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-3-21
Journal Detail:
Title:  Journal of thrombosis and haemostasis : JTH     Volume:  -     ISSN:  1538-7836     ISO Abbreviation:  -     Publication Date:  2011 Mar 
Date Detail:
Created Date:  2011-3-25     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101170508     Medline TA:  J Thromb Haemost     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2011 International Society on Thrombosis and Haemostasis.
Affiliation:
VitaK and Cardiovascular Research Institute Maastricht, Maastricht University, Maastricht, The Netherlands Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands Division of Molecular Paediatrics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland Department of Radiology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands Department of Otorhinolaryngology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands Centre for Paediatrics and Adolescent Medicine, Freiburg University Hospital, Freiburg, Germany Department of Pathology, Klinikum Kassel, Kassel, Germany Department of Biochemistry, Cardiovascular Research Institute Maastricht, Maastricht University, Maastricht, The Netherlands Department of Internal Medicine, Division of Nephrology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
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