Inherited Proteoglycan Biosynthesis Defects—Current Laboratory Tools and Bikunin as a Promising Blood Biomarker

Proteoglycans consist of proteins linked to sulfated glycosaminoglycan chains. They constitute a family of macromolecules mainly involved in the architecture of organs and tissues as major components of extracellular matrices. Some proteoglycans also act as signaling molecules involved in inflammato...

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Autores principales:	Walid Haouari, Johanne Dubail, Christian Poüs, Valérie Cormier-Daire, Arnaud Bruneel
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	bikunin CDG linkeropathies GAG proteoglycans skeletal dysplasia Genetics QH426-470
Acceso en línea:	https://doaj.org/article/657dafd9e1514c6b843b83717c3b0213
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id	oai:doaj.org-article:657dafd9e1514c6b843b83717c3b0213
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spelling	oai:doaj.org-article:657dafd9e1514c6b843b83717c3b02132021-11-25T17:40:16ZInherited Proteoglycan Biosynthesis Defects—Current Laboratory Tools and Bikunin as a Promising Blood Biomarker10.3390/genes121116542073-4425https://doaj.org/article/657dafd9e1514c6b843b83717c3b02132021-10-01T00:00:00Zhttps://www.mdpi.com/2073-4425/12/11/1654https://doaj.org/toc/2073-4425Proteoglycans consist of proteins linked to sulfated glycosaminoglycan chains. They constitute a family of macromolecules mainly involved in the architecture of organs and tissues as major components of extracellular matrices. Some proteoglycans also act as signaling molecules involved in inflammatory response as well as cell proliferation, adhesion, and differentiation. Inborn errors of proteoglycan metabolism are a group of orphan diseases with severe and irreversible skeletal abnormalities associated with multiorgan impairments. Identifying the gene variants that cause these pathologies proves to be difficult because of unspecific clinical symptoms, hardly accessible functional laboratory tests, and a lack of convenient blood biomarkers. In this review, we summarize the molecular pathways of proteoglycan biosynthesis, the associated inherited syndromes, and the related biochemical screening techniques, and we focus especially on a circulating proteoglycan called bikunin and on its potential as a new biomarker of these diseases.Walid HaouariJohanne DubailChristian PoüsValérie Cormier-DaireArnaud BruneelMDPI AGarticlebikuninCDGlinkeropathiesGAGproteoglycansskeletal dysplasiaGeneticsQH426-470ENGenes, Vol 12, Iss 1654, p 1654 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	bikunin CDG linkeropathies GAG proteoglycans skeletal dysplasia Genetics QH426-470
spellingShingle	bikunin CDG linkeropathies GAG proteoglycans skeletal dysplasia Genetics QH426-470 Walid Haouari Johanne Dubail Christian Poüs Valérie Cormier-Daire Arnaud Bruneel Inherited Proteoglycan Biosynthesis Defects—Current Laboratory Tools and Bikunin as a Promising Blood Biomarker
description	Proteoglycans consist of proteins linked to sulfated glycosaminoglycan chains. They constitute a family of macromolecules mainly involved in the architecture of organs and tissues as major components of extracellular matrices. Some proteoglycans also act as signaling molecules involved in inflammatory response as well as cell proliferation, adhesion, and differentiation. Inborn errors of proteoglycan metabolism are a group of orphan diseases with severe and irreversible skeletal abnormalities associated with multiorgan impairments. Identifying the gene variants that cause these pathologies proves to be difficult because of unspecific clinical symptoms, hardly accessible functional laboratory tests, and a lack of convenient blood biomarkers. In this review, we summarize the molecular pathways of proteoglycan biosynthesis, the associated inherited syndromes, and the related biochemical screening techniques, and we focus especially on a circulating proteoglycan called bikunin and on its potential as a new biomarker of these diseases.
format	article
author	Walid Haouari Johanne Dubail Christian Poüs Valérie Cormier-Daire Arnaud Bruneel
author_facet	Walid Haouari Johanne Dubail Christian Poüs Valérie Cormier-Daire Arnaud Bruneel
author_sort	Walid Haouari
title	Inherited Proteoglycan Biosynthesis Defects—Current Laboratory Tools and Bikunin as a Promising Blood Biomarker
title_short	Inherited Proteoglycan Biosynthesis Defects—Current Laboratory Tools and Bikunin as a Promising Blood Biomarker
title_full	Inherited Proteoglycan Biosynthesis Defects—Current Laboratory Tools and Bikunin as a Promising Blood Biomarker
title_fullStr	Inherited Proteoglycan Biosynthesis Defects—Current Laboratory Tools and Bikunin as a Promising Blood Biomarker
title_full_unstemmed	Inherited Proteoglycan Biosynthesis Defects—Current Laboratory Tools and Bikunin as a Promising Blood Biomarker
title_sort	inherited proteoglycan biosynthesis defects—current laboratory tools and bikunin as a promising blood biomarker
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/657dafd9e1514c6b843b83717c3b0213
work_keys_str_mv	AT walidhaouari inheritedproteoglycanbiosynthesisdefectscurrentlaboratorytoolsandbikuninasapromisingbloodbiomarker AT johannedubail inheritedproteoglycanbiosynthesisdefectscurrentlaboratorytoolsandbikuninasapromisingbloodbiomarker AT christianpous inheritedproteoglycanbiosynthesisdefectscurrentlaboratorytoolsandbikuninasapromisingbloodbiomarker AT valeriecormierdaire inheritedproteoglycanbiosynthesisdefectscurrentlaboratorytoolsandbikuninasapromisingbloodbiomarker AT arnaudbruneel inheritedproteoglycanbiosynthesisdefectscurrentlaboratorytoolsandbikuninasapromisingbloodbiomarker
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Inherited Proteoglycan Biosynthesis Defects—Current Laboratory Tools and Bikunin as a Promising Blood Biomarker

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