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Defect in dermatan sulfate in urine of patients with Ehlers-Danlos syndrome caused by a CHST14/D4ST1 deficiency

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Title: Defect in dermatan sulfate in urine of patients with Ehlers-Danlos syndrome caused by a CHST14/D4ST1 deficiency
Authors: Mizumoto, Shuji Browse this author
Kosho, Tomoki Browse this author
Hatamochi, Atsushi Browse this author
Honda, Tomoko Browse this author
Yamaguchi, Tomomi Browse this author
Okamoto, Nobuhiko Browse this author
Miyake, Noriko Browse this author
Yamada, Shuhei Browse this author
Sugahara, Kazuyuki Browse this author →KAKEN DB
Keywords: Carbohydrate sulfotransferase 14
Chondroitin sulfate
Dermatan sulfate
Dermatan 4-O-sulfotransferase
Ehlers-Danlos syndrome
Urine
Issue Date: Aug-2017
Publisher: Elsevier
Journal Title: Clinical Biochemistry
Volume: 50
Issue: 12
Start Page: 670
End Page: 677
Publisher DOI: 10.1016/j.clinbiochem.2017.02.018
PMID: 28238810
Abstract: Purpose: Dermatan sulfate (DS) plays a number of roles in a wide range of biological activities such as cell signaling and tissue morphogenesis through interactions with various extracellular matrix proteins including collagen. Mutations in the carbohydrate sulfotransferase 14 gene (CHST14) encoding CHST14/dermatan 4-O-sulfotransferase-1 (D4ST1), which is responsible for the biosynthesis of DS, cause a recently delineated form of Ehlers-Danlos syndrome (EDS, musculocontractural type 1), an autosomal recessive connective tissue disorder characterized by congenital malformations (specific craniofacial features, and congenital multiple contractures) and progressive fragility-related complications (skin hyperextensibility, bruisability, and fragility with atrophic scars; recurrent dislocations; progressive talipes or spinal deformities; and large subcutaneous hematomas). In an attempt to develop a diagnostic screening method for this type of EDS, the amount of DS in the urine of patients was analyzed. Methods: Urinary DS was quantified by an anion-exchange chromatography after treatment with DS specific degrading enzyme. Results: DS was not detected in the urine of patients with homo- or compound heterozygous mutations in CHST14. These results suggest that the quantification of DS in urine is applicable to an initial diagnosis of DS-defective EDS. Conclusions: This is the first study to perform a urinary disaccharide compositional analysis of chondroitin sulfate (CS)/DS chains in patients with EDS caused by a CHST14/D4ST1 deficiency, and demonstrated the absence of DS chains. This result suggests systemic DS depletion in this disorder, and also proposes the usefulness of a urinary disaccharide compositional analysis of CS/DS chains as a non-invasive screening method for this disorder. (C) 2017 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.
Rights: ©2017. This manuscript version is made available under the CC-BY-NC-ND 4.0 license http://creativecommons.org/licenses/by-nc-nd/4.0/
http://creativecommons.org/licenses/by-nc-nd/4.0/
Type: article (author version)
URI: http://hdl.handle.net/2115/68359
Appears in Collections:生命科学院・先端生命科学研究院 (Graduate School of Life Science / Faculty of Advanced Life Science) > 雑誌発表論文等 (Peer-reviewed Journal Articles, etc)

Submitter: 菅原 一幸

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