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Recent Advances in the Pathophysiology of Musculocontractural Ehlers-Danlos Syndrome
http://hdl.handle.net/10659/00006629
http://hdl.handle.net/10659/00006629a778186b-8306-443e-9e0f-599e12d00ced
| 名前 / ファイル | ライセンス | アクション |
|---|---|---|
R-2020-52_watanabe.pdf (1.7 MB)
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| Item type | 学術雑誌論文 / Journal Article(1) | |||||
|---|---|---|---|---|---|---|
| 公開日 | 2020-11-18 | |||||
| タイトル | ||||||
| タイトル | Recent Advances in the Pathophysiology of Musculocontractural Ehlers-Danlos Syndrome | |||||
| 言語 | ||||||
| 言語 | eng | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | musculocontractural Ehlers–Danlos Syndome | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | carbohydrate sulfotransferase-14 (CHST14)/dermatan 4-O-sulfotransferase-1 (D4ST1) | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | CHST14 | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | dermatan sulfate epimerase (DSE) | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | DSE | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | dermatan sulfate (DS) | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | decorin | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | collagen | |||||
| キーワード | ||||||
| 言語 | en | |||||
| 主題Scheme | Other | |||||
| 主題 | musculocontractural Ehlers–Danlos Syndome | |||||
| キーワード | ||||||
| 言語 | en | |||||
| 主題Scheme | Other | |||||
| 主題 | carbohydrate sulfotransferase-14 (CHST14)/dermatan 4-O-sulfotransferase-1 (D4ST1) | |||||
| キーワード | ||||||
| 言語 | en | |||||
| 主題Scheme | Other | |||||
| 主題 | CHST14 | |||||
| キーワード | ||||||
| 言語 | en | |||||
| 主題Scheme | Other | |||||
| 主題 | dermatan sulfate epimerase (DSE) | |||||
| キーワード | ||||||
| 言語 | en | |||||
| 主題Scheme | Other | |||||
| 主題 | DSE | |||||
| キーワード | ||||||
| 言語 | en | |||||
| 主題Scheme | Other | |||||
| 主題 | dermatan sulfate (DS) | |||||
| キーワード | ||||||
| 言語 | en | |||||
| 主題Scheme | Other | |||||
| 主題 | decorin | |||||
| キーワード | ||||||
| 言語 | en | |||||
| 主題Scheme | Other | |||||
| 主題 | collagen | |||||
| 資源タイプ | ||||||
| 資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||
| 資源タイプ | journal article | |||||
| 著者 |
Kosho, Tomoki
× Kosho, Tomoki× Mizumoto, Shuji× 渡邉, 敬文× Yoshizawa, Takahiro× Miyake, Noriko× Yamada, Shuhei |
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| 抄録 | ||||||
| 内容記述タイプ | Abstract | |||||
| 内容記述 | Musculocontractural Ehlers–Danlos Syndome (mcEDS) is a type of EDS caused by biallelic pathogenic variants in the gene for carbohydrate sulfotransferase 14/dermatan 4-O-sulfotransferase 1 (CHST14/D4ST1, mcEDS-CHST14), or in the gene for dermatan sulfate epimerase (DSE, mcEDS-DSE). Thus far, 41 patients from 28 families with mcEDS-CHST14 and five patients from four families with mcEDS-DSE have been described in the literature. Clinical features comprise multisystem congenital malformations and progressive connective tissue fragility-related manifestations. This review outlines recent advances in understanding the pathophysiology of mcEDS. Pathogenic variants in CHST14 or DSE lead to reduced activities of relevant enzymes, resulting in a negligible amount of dermatan sulfate (DS) and an excessive amount of chondroitin sulfate. Connective tissue fragility is presumably attributable to a compositional change in the glycosaminoglycan chains of decorin, a major DS-proteoglycan in the skin that contributes to collagen fibril assembly. Collagen fibrils in affected skin are dispersed in the papillary to reticular dermis, whereas those in normal skin are regularly and tightly assembled. Glycosaminoglycan chains are linear in affected skin, stretching from the outer surface of collagen fibrils to adjacent fibrils; glycosaminoglycan chains are curved in normal skin, maintaining close contact with attached collagen fibrils. Homozygous (Chst14−/−) mice have been shown perinatal lethality, shorter fetal length and vessel-related placental abnormalities. Milder phenotypes in mcEDS-DSE might be related to a smaller fraction of decorin DS, potentially through residual DSE activity or compensation by DSE2 activity. These findings suggest critical roles of DS and DS-proteoglycans in the multisystem development and maintenance of connective tissues, and provide fundamental evidence to support future etiology-based therapies. | |||||
| 書誌情報 |
Genes 巻 11, 号 1, p. 43-1-43-14, 発行日 2019-12 |
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| DOI | ||||||
| 関連タイプ | isIdenticalTo | |||||
| 識別子タイプ | DOI | |||||
| 関連識別子 | https://doi.org/10.3390/genes11010043 | |||||
| 権利（URI） | ||||||
| 権利情報 | https://creativecommons.org/licenses/by/4.0/ | https://creativecommons.org/licenses/by/4.0/ | |||||
| 著者版フラグ | ||||||
| 出版タイプ | VoR | |||||
| 出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||
| 出版者 | ||||||
| 出版者 | MDPI | |||||
| 資源タイプ | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | Article | |||||
