Genetics of the Ehlers–Danlos syndrome: More than collagen disorders

Van Damme, Tim; Syx, Delfien; Coucke, Paul; Symoens, Sofie; De Paepe, Anne; Malfait, Fransiska

doi:10.1517/21678707.2015.1022528

Cited by 4Connective tissue disorders researchDermatological and Skeletal DisordersDupuytren's Contracture and Treatments

Genetics of the Ehlers–Danlos syndrome: More than collagen disorders

Van Damme, Tim, Syx, Delfien, Coucke, Paul, Symoens, Sofie, De Paepe, Anne, Malfait, Fransiska·2015·Expert Opinion on Orphan Drugs

DOI 10.1517/21678707.2015.1022528

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Abstract

Introduction: The Ehlers-Danlos syndrome (EDS) comprises a clinically and genetically diverse group of heritable connective tissue disorders, characterized by joint hypermobility, skin hyperextensibility and generalized connective tissue friability. Although the initially characterized subtypes were shown to result from defects in fibrillar collagens (types I, III, V) or their modifying enzymes, recent discoveries have implicated other molecules, such as tenascin X and glycosaminoglycan synthesis enzymes, in the pathogenesis of these disorders.Areas covered: This article summarizes the current knowledge on the biosynthesis of collagen fibrils and focuses on the molecules involved in this process, especially those relevant to the pathogenesis of EDS. It also provides an overview of the general clinical presentation of EDS and the genetic defects underlying its different subtypes.Expert opinion: The recent identification of several novel types of EDS has greatly expanded its clinical and genetic heterogeneity, and the genomic era promises to provide even more insights into the molecular basis of unresolved types of EDS. At the same time the underlying pathophysiologic mechanisms in these disorders are still poorly understood. Therefore, future research should focus on the elucidation of these mechanisms, and the identification of clinically reliable biomarkers and targetable signaling pathways and cellular processes.

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Mechanical weakness is considered the driving factor of connective tissue fragility in EDS.
“This mechanical weakness is considered the driving factor of connective tissue fragility, even if it is likely that multiple cell-matrix interplays and involvement of distinct intracellular signaling pathways contribute to the molecular pathology of the different EDS phenotypes [38].”
From Cellular and Molecular Mechanisms in the Pathogenesis of Classical, Vascular, and Hypermobile Ehlers‒Danlos Syndromes (2019) · cites this paper as [38]
Multiple cell-matrix interplays and distinct intracellular signaling pathways likely contribute to the molecular pathology of different EDS phenotypes.
“This mechanical weakness is considered the driving factor of connective tissue fragility, even if it is likely that multiple cell-matrix interplays and involvement of distinct intracellular signaling pathways contribute to the molecular pathology of the different EDS phenotypes [38].”
From Cellular and Molecular Mechanisms in the Pathogenesis of Classical, Vascular, and Hypermobile Ehlers‒Danlos Syndromes (2019) · cites this paper as [38]

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Cellular and Molecular Mechanisms in the Pathogenesis of Classical, Vascular, and Hypermobile Ehlers‒Danlos Syndromes
Chiarelli, N., Ritelli, M., Zoppi, N., & Colombi, M. (2019) · Genes · doi:10.3390/genes10080609 · Cited by 82 · see citing works
Hypomorphic zebrafish models mimic the musculoskeletal phenotype of β4GalT7-deficient Ehlers-Danlos syndrome
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Genetics of ehlers-danlos syndrome
Rosita, M., Alima, I. R. N., & Auerkari, E. I. (2021) · Journal of Physics Conference Series · doi:10.1088/1742-6596/1943/1/012092 · Cited by 1 · see citing works
Das Ehlers-Danlos-Syndrom mit Schwerpunkt auf dem hypermobilen Typ und dessen Begleiterkrankungen - eine Literaturübersicht
Ku, S. (2015) · Journal für Kardiologie (Krause & Pachernegg GmbH) · Cited by 1 · see citing works

Authors: Van Damme, T., Syx, D., Coucke, P., Symoens, S., De Paepe, A., & Malfait, F.
Affiliations: Ghent University Hospital (BE)
ORCID: Syx, Delfien
Coucke, Paul
Symoens, Sofie
Malfait, Fransiska
Venue: Expert Opinion on Orphan Drugs
Publisher: Informa UK Limited
Published: 2015-03-07
Volume: 3
Issue: 4
Pages: 379-392
ISSN: 2167-8707 (ISSN-L)
DOI: 10.1517/21678707.2015.1022528
OpenAlex: W2064969716
Cited by: 4
References: 135
Citations by year: 2021: 1 · 2019: 2 · 2015: 1
FWCI: 0.23
Type: journal article
Language: en
Open access: closed
Locations: Expert Opinion on Orphan Drugs (publishedVersion)
Ghent University Academic Bibliography (Ghent University) (submittedVersion)
Funders: Fonds Wetenschappelijk Onderzoek (G.0171.05, 08/01M01108)
Universiteit Gent (08/01M01108)
Vlaamse regering
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Dermatological and Skeletal Disorders
Health Sciences › Medicine › Rheumatology › Dupuytren's Contracture and Treatments
Keywords: Ehlers-Danlos syndrome, connective tissue diseases, tenascin-X, joint hypermobility, skin hyperextensibility, genetic heterogeneity, biomarkers, signaling pathways

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Genetics of the Ehlers–Danlos syndrome: More than collagen disorders

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