| Autor: |
Haouari W; INSERM UMR1193, Paris-Saclay University, Faculté de Pharmacie, 5 rue Jean-Baptiste Clément, 92220 Châtenay-Malabry, France., Dubail J; INSERM UMR1163, French Reference Center for Skeletal Dysplasia, Imagine Institute, Paris University, 24 Boulevard du Montparnasse, 75015 Paris, France.; AP-HP, Necker Enfants Malades Hospital, 149 rue de Sèvres, 75015 Paris, France., Poüs C; INSERM UMR1193, Paris-Saclay University, Faculté de Pharmacie, 5 rue Jean-Baptiste Clément, 92220 Châtenay-Malabry, France., Cormier-Daire V; INSERM UMR1163, French Reference Center for Skeletal Dysplasia, Imagine Institute, Paris University, 24 Boulevard du Montparnasse, 75015 Paris, France.; AP-HP, Necker Enfants Malades Hospital, 149 rue de Sèvres, 75015 Paris, France., Bruneel A; INSERM UMR1193, Paris-Saclay University, Faculté de Pharmacie, 5 rue Jean-Baptiste Clément, 92220 Châtenay-Malabry, France.; AP-HP, Biochimie Métabolique et Cellulaire, Hôpital Bichat-Claude Bernard, 46 rue Henri Huchard, 75018 Paris, France. |
| Abstrakt: |
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. |
