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Musculocontractural Ehlers-Danlos Syndrome and the Biological Role of Dermatan Sulfate
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Musculocontractural Ehlers-Danlos Syndrome and the Biological Role of Dermatan Sulfate

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: closed (15 March 2023) | Viewed by 12274

Special Issue Editors

Prof. Dr. Tomoki Kosho

E-Mail Website
Guest Editor
1. Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto 390-8621, Japan
2. Center for Medical Genetics, Shinshu University Hospital, Matsumoto 390-8621, Japan
3. Research Center for Supports to Advanced Science, Matsumoto 390-8621, Japan
4. Division of Clinical Sequencing, Shinshu University School of Medicine, Matsumoto 390-8621, Japan
5. BioBank Shinshu, Shinshu University Hospital, Matsumoto 390-8621, Japan
Interests: Ehlers–Danlos syndrome; medical genetics; human genetics
Special Issues, Collections and Topics in MDPI journals
Dr. Shuji Mizumoto

E-Mail Website
Guest Editor
Department of Pathobiochemistry, Faculty of Pharmacy, Meijo University, Nagoya 468-8503, Japan
Interests: proteoglycan; glycosaminoglycan; chondroitin sulfate; dermatan sulfate; heparan sulfate; Ehlers–Danlos syndrome; spondyloepimetaphyseal dysplasia

Special Issue Information

Dear Colleagues, 

Ehlers−Danlos syndrome (EDS) is a clinically and genetically heterogeneous group of heritable connective tissue disorders characterized by skin hyperextensibility, joint hypermobility and tissue fragility. The 2017 International Classification of EDS identified 13 subtypes based on their clinical and genetic backgrounds, among them musculocontractural Ehlers–Danlos syndrome (mcEDS), caused by biallelic loss-of-function variants either in the gene for carbohydrate sulfotransferase 14/dermatan 4-O-sulfotransferase 1 (CHST14/D4ST1, mcEDS-CHST14) (MIM#601776) or that for dermatan sulfate epimerase (DSE, mcEDS-DSE) (MIM#615539). Dermatan sulfate depletion through impaired activities of D4ST1 or DSE constitutes the basis of the disorder. To date, 66 patients (48 families) and 13 patients (7 families) with mcEDS-CHST14 and mcEDS-DSE , respectively, have been reported. Clinical characteristics include multiple malformations (e.g., craniofacial features, multiple congenital contractures, ocular and visceral malformations) and progressive fragility-related manifestations (e.g., skin hyperextensibility and fragility, joint hypermobility with luxation, progressive spinal and foot deformities, large subcutaneous hematoma and visceral ruptures). This is a human condition that affects the biosynthesis of dermatan sulfate, a side chain of proteoglycans; therefore, clinical, genetic, biochemical, glycobiological and pathological investigation of the disorder could elucidate dermatan sulfate proteoglycans’ fundamental biological roles in fetal development and maintenance of the connective tissue system. This Special Issue will feature a detailed overview of the latest clinical research and relevant findings as well as a comprehensive review of the literature on Ehlers–Danlos syndrome or dermatan sulfate biosynthesis. These findings would be helpful not only to clinicians involved in the management of hereditary connective tissue disorders but also scientists interested in the biological and pathological roles of dermatan sulfate proteoglycan.

Prof. Dr. Tomoki Kosho
Dr. Shuji Mizumoto
Guest Editors

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Keywords

  • musculocontractural Ehlers–Danlos syndrome
  • dermatan sulfate
  • dermatan 4-O-sulfotransferase
  • dermatan sulfate epimerase
  • decorin
  • collagen fibril network
  • genetics
  • glycobiology
  • proteoglycan

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Published Papers (4 papers)

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Review

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11 pages, 1025 KiB  
Review
Spinal Deformity in Ehlers–Danlos Syndrome: Focus on Musculocontractural Type
by Masashi Uehara, Jun Takahashi and Tomoki Kosho
Genes 2023, 14(6), 1173; https://doi.org/10.3390/genes14061173 - 27 May 2023
Cited by 2 | Viewed by 2874
Abstract
Spinal deformity in Ehlers–Danlos syndrome (EDS) is an important symptom that can lead to trunk balance deterioration, respiratory dysfunction, and digestive disorders as the deformity progresses, thereby reducing a patient’s quality of life and activities of daily living. The severity of the deformity [...] Read more.
Spinal deformity in Ehlers–Danlos syndrome (EDS) is an important symptom that can lead to trunk balance deterioration, respiratory dysfunction, and digestive disorders as the deformity progresses, thereby reducing a patient’s quality of life and activities of daily living. The severity of the deformity varies widely, with treatment depending on the extent and the presence of associated complications. The present review addressed the current state of clinical research and treatment of spinal deformities in EDS with a specific focus on the musculocontractural type. Further studies are needed to better understand the underlying mechanisms of spinal deformity in EDS. Full article
(This article belongs to the Special Issue Musculocontractural Ehlers-Danlos Syndrome and the Biological Role of Dermatan Sulfate)
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16 pages, 724 KiB  
Review
Histories of Dermatan Sulfate Epimerase and Dermatan 4-O-Sulfotransferase from Discovery of Their Enzymes and Genes to Musculocontractural Ehlers-Danlos Syndrome
by Shuji Mizumoto and Shuhei Yamada
Genes 2023, 14(2), 509; https://doi.org/10.3390/genes14020509 - 16 Feb 2023
Cited by 2 | Viewed by 2576
Abstract
Dermatan sulfate (DS) and its proteoglycans are essential for the assembly of the extracellular matrix and cell signaling. Various transporters and biosynthetic enzymes for nucleotide sugars, glycosyltransferases, epimerase, and sulfotransferases, are involved in the biosynthesis of DS. Among these enzymes, dermatan sulfate epimerase [...] Read more.
Dermatan sulfate (DS) and its proteoglycans are essential for the assembly of the extracellular matrix and cell signaling. Various transporters and biosynthetic enzymes for nucleotide sugars, glycosyltransferases, epimerase, and sulfotransferases, are involved in the biosynthesis of DS. Among these enzymes, dermatan sulfate epimerase (DSE) and dermatan 4-O-sulfotranserase (D4ST) are rate-limiting factors of DS biosynthesis. Pathogenic variants in human genes encoding DSE and D4ST cause the musculocontractural type of Ehlers-Danlos syndrome, characterized by tissue fragility, joint hypermobility, and skin hyperextensibility. DS-deficient mice exhibit perinatal lethality, myopathy-related phenotypes, thoracic kyphosis, vascular abnormalities, and skin fragility. These findings indicate that DS is essential for tissue development as well as homeostasis. This review focuses on the histories of DSE as well as D4ST, and their knockout mice as well as human congenital disorders. Full article
(This article belongs to the Special Issue Musculocontractural Ehlers-Danlos Syndrome and the Biological Role of Dermatan Sulfate)
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Graphical abstract

12 pages, 1668 KiB  
Review
Mouse Models of Musculocontractural Ehlers-Danlos Syndrome
by Takahiro Yoshizawa and Tomoki Kosho
Genes 2023, 14(2), 436; https://doi.org/10.3390/genes14020436 - 8 Feb 2023
Viewed by 3253
Abstract
Musculocontractural Ehlers-Danlos syndrome (mcEDS) is a subtype of EDS caused by mutations in the gene for carbohydrate sulfotransferase 14 (CHST14) (mcEDS-CHST14) or dermatan sulfate epimerase (DSE) (mcEDS-DSE). These mutations induce loss of enzymatic activity in [...] Read more.
Musculocontractural Ehlers-Danlos syndrome (mcEDS) is a subtype of EDS caused by mutations in the gene for carbohydrate sulfotransferase 14 (CHST14) (mcEDS-CHST14) or dermatan sulfate epimerase (DSE) (mcEDS-DSE). These mutations induce loss of enzymatic activity in D4ST1 or DSE and disrupt dermatan sulfate (DS) biosynthesis. The depletion of DS causes the symptoms of mcEDS, such as multiple congenital malformations (e.g., adducted thumbs, clubfeet, and craniofacial characteristics) and progressive connective tissue fragility-related manifestations (e.g., recurrent dislocations, progressive talipes or spinal deformities, pneumothorax or pneumohemothorax, large subcutaneous hematomas, and/or diverticular perforation). Careful observations of patients and model animals are important to investigate pathophysiological mechanisms and therapies for the disorder. Some independent groups have investigated Chst14 gene-deleted (Chst14-/-) and Dse-/- mice as models of mcEDS-CHST14 and mcEDS-DSE, respectively. These mouse models exhibit similar phenotypes to patients with mcEDS, such as suppressed growth and skin fragility with deformation of the collagen fibrils. Mouse models of mcEDS-CHST14 also show thoracic kyphosis, hypotonia, and myopathy, which are typical complications of mcEDS. These findings suggest that the mouse models can be useful for research uncovering the pathophysiology of mcEDS and developing etiology-based therapy. In this review, we organize and compare the data of patients and model mice. Full article
(This article belongs to the Special Issue Musculocontractural Ehlers-Danlos Syndrome and the Biological Role of Dermatan Sulfate)
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Other

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7 pages, 1901 KiB  
Case Report
Detailed Courses and Pathological Findings of Colonic Perforation without Diverticula in Sisters with Musculocontractural Ehlers–Danlos Syndrome Caused by Pathogenic Variant in CHST14 (mcEDS-CHST14)
by Tomoko Kobayashi, Fumiyoshi Fujishima, Kazuaki Tokodai, Chiaki Sato, Takashi Kamei, Noriko Miyake, Naomichi Matsumoto and Tomoki Kosho
Genes 2023, 14(5), 1079; https://doi.org/10.3390/genes14051079 - 14 May 2023
Viewed by 2619
Abstract
Musculocontractural Ehlers–Danlos syndrome (mcEDS) is a heritable connective tissue disorder characterized by multiple congenital malformations and progressive connective-tissue-fragility-related manifestations in the cutaneous, skeletal, cardiovascular, visceral, ocular, and gastrointestinal systems. It is caused by pathogenic variants in the carbohydrate sulfotransferase 14 gene (mcEDS-CHST14 [...] Read more.
Musculocontractural Ehlers–Danlos syndrome (mcEDS) is a heritable connective tissue disorder characterized by multiple congenital malformations and progressive connective-tissue-fragility-related manifestations in the cutaneous, skeletal, cardiovascular, visceral, ocular, and gastrointestinal systems. It is caused by pathogenic variants in the carbohydrate sulfotransferase 14 gene (mcEDS-CHST14) or in the dermatan sulfate epimerase gene (mcEDS-DSE). As gastrointestinal complications of mcEDS-CHST14, diverticula in the colon, small intestine, or stomach have been reported, which may lead to gastrointestinal perforation, here, we describe sisters with mcEDS-CHST14, who developed colonic perforation with no evidence of diverticula and were successfully treated through surgery (a resection of perforation site and colostomy) and careful postoperative care. A pathological investigation did not show specific abnormalities of the colon at the perforation site. Patients with mcEDS-CHST14 aged from the teens to the 30s should undergo not only abdominal X-ray photography but also abdominal computed tomography when they experience abdominal pain. Full article
(This article belongs to the Special Issue Musculocontractural Ehlers-Danlos Syndrome and the Biological Role of Dermatan Sulfate)
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