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

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 i...

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Autores principales:	Ramla Omar, Fransiska Malfait, Tom Van Agtmael
Formato:	article
Lenguaje:	EN
Publicado:	Elsevier 2021
Materias:	Collagen Ehlers Danlos Syndrome Extracellular matrix Endoplasmic reticulum stress Disease mechanisms Precision medicine Biology (General) QH301-705.5
Acceso en línea:	https://doaj.org/article/452f1caa58e84d28885d5a7c4703abde
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spelling	oai:doaj.org-article:452f1caa58e84d28885d5a7c4703abde2021-11-22T04:29:17ZFour decades in the making: Collagen III and mechanisms of vascular Ehlers Danlos Syndrome2590-028510.1016/j.mbplus.2021.100090https://doaj.org/article/452f1caa58e84d28885d5a7c4703abde2021-12-01T00:00:00Zhttp://www.sciencedirect.com/science/article/pii/S259002852100034Xhttps://doaj.org/toc/2590-0285Vascular 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.Ramla OmarFransiska MalfaitTom Van AgtmaelElsevierarticleCollagenEhlers Danlos SyndromeExtracellular matrixEndoplasmic reticulum stressDisease mechanismsPrecision medicineBiology (General)QH301-705.5ENMatrix Biology Plus, Vol 12, Iss , Pp 100090- (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Collagen Ehlers Danlos Syndrome Extracellular matrix Endoplasmic reticulum stress Disease mechanisms Precision medicine Biology (General) QH301-705.5
spellingShingle	Collagen Ehlers Danlos Syndrome Extracellular matrix Endoplasmic reticulum stress Disease mechanisms Precision medicine Biology (General) QH301-705.5 Ramla Omar Fransiska Malfait Tom Van Agtmael Four decades in the making: Collagen III and mechanisms of vascular Ehlers Danlos Syndrome
description	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.
format	article
author	Ramla Omar Fransiska Malfait Tom Van Agtmael
author_facet	Ramla Omar Fransiska Malfait Tom Van Agtmael
author_sort	Ramla Omar
title	Four decades in the making: Collagen III and mechanisms of vascular Ehlers Danlos Syndrome
title_short	Four decades in the making: Collagen III and mechanisms of vascular Ehlers Danlos Syndrome
title_full	Four decades in the making: Collagen III and mechanisms of vascular Ehlers Danlos Syndrome
title_fullStr	Four decades in the making: Collagen III and mechanisms of vascular Ehlers Danlos Syndrome
title_full_unstemmed	Four decades in the making: Collagen III and mechanisms of vascular Ehlers Danlos Syndrome
title_sort	four decades in the making: collagen iii and mechanisms of vascular ehlers danlos syndrome
publisher	Elsevier
publishDate	2021
url	https://doaj.org/article/452f1caa58e84d28885d5a7c4703abde
work_keys_str_mv	AT ramlaomar fourdecadesinthemakingcollageniiiandmechanismsofvascularehlersdanlossyndrome AT fransiskamalfait fourdecadesinthemakingcollageniiiandmechanismsofvascularehlersdanlossyndrome AT tomvanagtmael fourdecadesinthemakingcollageniiiandmechanismsofvascularehlersdanlossyndrome
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Four decades in the making: Collagen III and mechanisms of vascular Ehlers Danlos Syndrome

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