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Title
  • Pathophysiological Significance of Dermatan Sulfate Proteoglycans Revealed by Human Genetic Disorders
Creator

Mizumoto, Shuji

Kosho, Tomoki

Yamada, Shuhei

Sugahara, Kazuyuki

Rights
    • http://creativecommons.org/licenses/by/4.0/
Subject
  • Other biglycan
  • Other carbohydrate sulfotransferase 14
  • Other decorin
  • Other chondroitin sulfate
  • Other dermatan sulfate
  • Other dermatan sulfate epimerase
  • Other dermatan 4-O-sulfotransferase
  • Other Ehlers-Danlos syndrome
  • Other glycosaminoglycan
  • Other proteoglycan
  • Other spondyloepimetaphyseal dysplasia
  • NDC 460
Description
Other
  • The indispensable roles of dermatan sulfate-proteoglycans (DS-PGs) have been demonstrated in various biological events including construction of the extracellular matrix and cell signaling through interactions with collagen and transforming growth factor- , respectively. Defects in the core proteins of DS-PGs such as decorin and biglycan cause congenital stromal dystrophy of the cornea, spondyloepimetaphyseal dysplasia, and Meester-Loeys syndrome. Furthermore, mutations in human genes encoding the glycosyltransferases, epimerases, and sulfotransferases responsible for the biosynthesis of DS chains cause connective tissue disorders including Ehlers-Danlos syndrome and spondyloepimetaphyseal dysplasia with joint laxity characterized by skin hyperextensibility, joint hypermobility, and tissue fragility, and by severe skeletal disorders such as kyphoscoliosis, short trunk, dislocation, and joint laxity. Glycobiological approaches revealed that mutations in DS-biosynthetic enzymes cause reductions in enzymatic activities and in the amount of synthesized DS and also disrupt the formation of collagen bundles. This review focused on the growing number of glycobiological studies on recently reported genetic diseases caused by defects in the biosynthesis of DS and DS-PGs.
PublisherMDPI
Date Issued 2017-06
Languageeng
NIItypejournal article
VersiontypeVoR
Identifier URI http://hdl.handle.net/2115/67053
Relation
  • isIdenticalTo DOI https://doi.org/10.3390/ph10020034
Journal
    • ISSN 1424-8247
    • Pharmaceuticals
    10(2), 34
File
Oaidate2019-10-09T06:46:11Z