Four decades in the making: collagen III and mechanisms of vascular Ehlers Danlos Syndrome

Omar, R., Malfait, F. and Van Agtmael, T. (2021) Four decades in the making: collagen III and mechanisms of vascular Ehlers Danlos Syndrome. Matrix Biology Plus, 12, 100090. (doi: 10.1016/j.mbplus.2021.100090)

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Abstract

Vascular Ehlers Danlos (vEDS) syndrome is a severe multi-systemic connective tissue disorder characterized by risk of dissection and rupture of the arteries, gastro-intestinal tract and gravid uterus. vEDS is caused by mutations in COL3A1, that encodes the alpha 1 chain of type III collagen, which is a major extracellular matrix component of the vasculature and hollow organs. The first causal mutations were identified in the 1980s but progress in our understanding of the pathomolecular mechanisms has been limited. Recently, the application of more refined animal models combined with global omics approaches has yielded important new insights both in terms of disease mechanisms and potential for therapeutic intervention. However, it is also becoming apparent that vEDS is a complex disorder in terms of its molecular disease mechanisms with a poorly understood allelic and mechanistic heterogeneity. In this brief review we will focus our attention on the disease mechanisms of COL3A1 mutations and vEDS, and recent progress in therapeutic approaches using animal models.

Item Type:Articles
Status:Published
Refereed:Yes
Glasgow Author(s) Enlighten ID:Van Agtmael, Dr Tom and Omar, Ms Ramla
Authors: Omar, R., Malfait, F., and Van Agtmael, T.
College/School:College of Medical Veterinary and Life Sciences > Institute of Cardiovascular and Medical Sciences
Journal Name:Matrix Biology Plus
Publisher:Elsevier
ISSN:2590-0285
ISSN (Online):2590-0285
Published Online:09 November 2021
Copyright Holders:Copyright © 2021 The Authors
First Published:First published in Matrix Biology Plus 12: 100090
Publisher Policy:Reproduced under a Creative Commons License

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Project CodeAward NoProject NamePrincipal InvestigatorFunder's NameFunder RefLead Dept
302164Collagen IV variants and their role in intracerebral haemorrhage in the general populationTom Van AgtmaelMedical Research Council (MRC)MR/R005567/1CAMS - Cardiovascular Science
300478Elucidation of molecular pathways underlying cardiac disease caused by Col4a1 mutationsTom Van AgtmaelHeart Research UK (HEARTRES)RG 2664/17/20CAMS - Cardiovascular Science