Clinical Chemistry
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
QUICK SEARCH:   [advanced]


     

Clinical Chemistry 49: 380-388, 2003; 10.1373/49.3.380
This Article
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow Data Supplement
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Right arrow Citation Map
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Web of Science (28)
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Maccari, F.
Right arrow Articles by Volpi, N.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Maccari, F.
Right arrow Articles by Volpi, N.
Related Collections
Right arrow Molecular Diagnostics and Genetics
Right arrow Proteomics and Protein Markers
Right arrow Endocrinology and Metabolism
(Clinical Chemistry. 2003;49:380-388.)
© 2003 American Association for Clinical Chemistry, Inc.

Anomalous Structure of Urinary Glycosaminoglycans in Patients with Pseudoxanthoma Elasticum

Francesca Maccari1, Dealba Gheduzzi2 and Nicola Volpia1

Departments of
1 Biologia Animale and
2 Scienze Biomediche, University of Modena and Reggio Emilia, Via Campi 213/D, 41100 Modena, Italy

aAuthor for correspondence. Fax 39-59-2055548; e-mail volpi{at}unimo.it.

Background: Pseudoxanthoma elasticum (PXE) is a hereditary connective tissue disease in which proteoglycans have altered properties. We investigated whether altered proteoglycan metabolism occurs in vivo and may be reflected in the urine of PXE individuals by analyzing the excreted polysaccharides.

Methods: We measured sulfated glycosaminoglycans in the urine of 10 PXE-affected patients, 12 healthy carriers, and 20 healthy controls by agarose gel electrophoresis. Chondroitin sulfate and heparan sulfate disaccharides were also quantified by treatment with specific lyases and separation of products by chromatography.

Results: Total polysaccharides were 34% lower in the urine of PXE-affected patients and 17% lower in healthy carriers than in the control group. Chondroitin sulfate was significantly (P <0.01) decreased, and heparan sulfate was significantly increased. The ratio of chondroitin sulfate to heparan sulfate was 2.7 for PXE-affected patients, 2.3 for healthy carriers, and 10.7 for controls. In PXE-affected individuals and carriers, chondroitin sulfate contained more 4-sulfated disaccharide, less 6-sulfated disaccharide, and decreased nonsulfated disaccharide. Heparan sulfate from PXE-affected individuals and healthy carriers produced significantly less N-sulfated disaccharide and more disaccharide sulfated at the C-6 position with no significant abnormality of the nonsulfated disaccharide percentage and sulfates:disaccharide ratio.

Conclusions: The urinary data support the concept that the inherited defect of the ABCC6/MRP6 transporter in PXE alters metabolism of key polysaccharides. Structural analysis of urinary sulfated polyanions may be useful in the diagnosis of PXE.




The following articles in journals at HighWire Press have cited this article:


Home page
 J. Med. Genet.Home page
S Schon, V Schulz, C Prante, D Hendig, C Szliska, J Kuhn, K Kleesiek, and C Gotting
Polymorphisms in the xylosyltransferase genes cause higher serum XT-I activity in patients with pseudoxanthoma elasticum (PXE) and are involved in a severe disease course
J. Med. Genet., September 1, 2006; 43(9): 745 - 749.
[Abstract] [Full Text] [PDF]

Home page
 Physiol. Rev.Home page
R. G. Deeley, C. Westlake, and S. P. C. Cole
Transmembrane Transport of Endo- and Xenobiotics by Mammalian ATP-Binding Cassette Multidrug Resistance Proteins.
Physiol Rev, July 1, 2006; 86(3): 849 - 899.
[Abstract] [Full Text] [PDF]

Home page
 Clin. Chem.Home page
D. Hendig, V. Schulz, M. Arndt, C. Szliska, K. Kleesiek, and C. Gotting
Role of Serum Fetuin-A, a Major Inhibitor of Systemic Calcification, in Pseudoxanthoma Elasticum
Clin. Chem., February 1, 2006; 52(2): 227 - 234.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
N Chassaing, L Martin, P Calvas, M Le Bert, and A Hovnanian
Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations
J. Med. Genet., December 1, 2005; 42(12): 881 - 892.
[Abstract] [Full Text] [PDF]


HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Copyright © 2003 by the American Association for Clinical Chemistry.