In vitro proteoglycan sulfation derived from sulfhydryl compounds in sulfate transporter chondrodysplasias.

Details

Serval ID
serval:BIB_29683
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
In vitro proteoglycan sulfation derived from sulfhydryl compounds in sulfate transporter chondrodysplasias.
Journal
Pediatric Pathology & Molecular Medicine
Author(s)
Rossi A., Cetta G., Piazza R., Bonaventure J., Steinmann B., Supereti-Furga A.
ISSN
1522-7952
Publication state
Published
Issued date
2003
Volume
22
Number
4
Pages
311-321
Language
english
Notes
Publication types: Comparative Study ; Journal Article ; Research Support, Non-U.S. Gov't
Abstract
Mutations in a sulfate-chloride antiporter gene, the diastrophic dysplasia sulfate transporter (DTDST), have been associated with a family of skeletal dysplasias including recessive multiple epiphyseal dysplasia, diastrophic dysplasia (DTD), atelosteogenesis type 2, and achondrogenesis type 1B (ACG1B). DTDST function is crucial for uptake of extracellular sulfate required for proteoglycan (PG) sulfation; the tissue-specific expression of the clinical phenotype may be the consequence of the high rate of PG synthesis in chondrocytes and the ensuing high sulfate requirement. We have studied the contribution of cysteine and its derivatives to PG sulfation in fibroblast and chondrocyte cultures from sulfate transporter dysplasia patients. Incubation of ACG1B fibroblasts in medium containing different concentrations of cystine indicated partial recovery of PG sulfation as measured by HPLC disaccharide analysis of chondroitin sulfate PGs; similar results were observed after incubation with N-acetylcysteine. When both compounds were tested in primary chondrocytes from a DTD patient, partial rescue of PG sulfation was observed, suggesting that the metabolic pathways producing cytoplasmic sulfate from thiols are also active in this cell type.
Keywords
Acetylcysteine/metabolism, Achondroplasia/genetics, Achondroplasia/metabolism, Anion Transport Proteins, Base Sequence, Camurati-Engelmann Syndrome/genetics, Camurati-Engelmann Syndrome/metabolism, Carrier Proteins/genetics, Carrier Proteins/metabolism, Cartilage, Articular/pathology, Cells, Cultured, Chondrocytes/metabolism, Chondrocytes/pathology, Chondroitin Sulfates/analysis, Chondroitin Sulfates/metabolism, Chromatography, High Pressure Liquid, Cystamine/metabolism, Cysteine/metabolism, Disaccharides/analysis, Disaccharides/chemistry, Fetus, Fibroblasts/metabolism, Fibroblasts/pathology, Humans, Membrane Transport Proteins, Proteoglycans/metabolism, Sequence Deletion, Skin/pathology, Sulfates/metabolism, Sulfates/pharmacokinetics, Sulfhydryl Compounds/metabolism
Pubmed
Web of science
Create date
19/11/2007 12:27
Last modification date
20/08/2019 13:09
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