Inherited Proteoglycan Biosynthesis Defects-Current Laboratory Tools and Bikunin as a Promising Blood Biomarker.
CDG
GAG
bikunin
linkeropathies
proteoglycans
skeletal dysplasia
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
20 10 2021
20 10 2021
Historique:
received:
27
09
2021
revised:
11
10
2021
accepted:
17
10
2021
entrez:
27
11
2021
pubmed:
28
11
2021
medline:
15
2
2022
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 34828260
pii: genes12111654
doi: 10.3390/genes12111654
pmc: PMC8625474
pii:
doi:
Substances chimiques
Alpha-Globulins
0
Biomarkers
0
Proteoglycans
0
alpha-1-microglobulin
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
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