Abstract
Summary: The properties of [35S]sulfate-labeled proteoglycans secreted by normal human skin fibroblasts were compared with those synthesized by fibroblasts from three patients with Coffin-Lowry syndrome. 60-80% of secreted radioactive macromolecules from normal fibroblasts were eluted from a Sepharose CL-4B column with a mean Kav-value of 0.56 (pool 2); 3-10% of the radioactivity appeared In the exclusion volume of the column (pool 1). In contrast, 17-60% of the proteoglycans from the patients were found in the void volume. The bulk of remaining material was eluted with a mean Kav-value of 0.47. Pool 2 glycan chains from two patients exhibited an increased hydrodynamic size.
Pool 1 from normal cells contained predominantly a glucuronic acid-rich proteodermatan sulfate, iduronic acid amounting for approximately 20% of glucuronic acid. In the respective proteodermatan sulfate from the patients, the relative iduronic acid content was at least 33% of that of glucuronic acid. Pool 2 material of all cell lines was characterized predominantly as iduronic acid-rich proteodermatan sulfate. In the proteoglycans from two patients the content of chondroitin 4-sulfate-derived disaccharides was increased at the expense of 6-sulfated chondroitin disaccharides. Native proteoglycans from the patients were less efficiently endocytosed by fibroblasts than their normal counterparts.
Coffin-Lowrv fibroblasts had a normal capability to synthesize glycosaminoglycan chains on an arteficial acceptor, p-nitrophenyl-β-D-xyloside. They were also normal In 3′-phosphoadenylylsulfate: chondroitin 4- and 6-sulfotransferase activities.
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Beck, M., Glössl, J., Rüter, R. et al. ABNORMAL PROTEODERMATAN SULFATE IN THREE PATIENTS WITH COFFIN-LOWRY SYNDROME. Pediatr Res 17, 926–929 (1983). https://doi.org/10.1203/00006450-198311000-00018
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DOI: https://doi.org/10.1203/00006450-198311000-00018
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