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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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タイトル: Defect in dermatan sulfate in urine of patients with Ehlers-Danlos syndrome caused by a CHST14/D4ST1 deficiency
著者: Mizumoto, Shuji 著作を一覧する
Kosho, Tomoki 著作を一覧する
Hatamochi, Atsushi 著作を一覧する
Honda, Tomoko 著作を一覧する
Yamaguchi, Tomomi 著作を一覧する
Okamoto, Nobuhiko 著作を一覧する
Miyake, Noriko 著作を一覧する
Yamada, Shuhei 著作を一覧する
Sugahara, Kazuyuki 著作を一覧する
キーワード: Carbohydrate sulfotransferase 14
Chondroitin sulfate
Dermatan sulfate
Dermatan 4-O-sulfotransferase
Ehlers-Danlos syndrome
発行日: 2017年 8月
出版者: Elsevier
誌名: Clinical Biochemistry
巻: 50
号: 12
開始ページ: 670
終了ページ: 677
出版社 DOI: 10.1016/j.clinbiochem.2017.02.018
PMID: 28238810
抄録: 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
資料タイプ: article (author version)
出現コレクション:雑誌発表論文等 (Peer-reviewed Journal Articles, etc)

提供者: 菅原 一幸


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