EFFECTS OF IDURSULFASE TREATMENT ON EXTRACELLULAR MATRIX COMPONENTS, INTRACELLULAR SIGNALING AND PROLIFERATION/DIFFERENTIATION REGULATION IN CALVARIA-DERIVED BONE TISSUE OF APERT SYNDROME PATIENTS

Experimental in vtiro approach to molecular pathways implicated in Apert Syndromes craniosynostosis through transcriptomics techniques. FGFR2 activation requires a tridimensional configuration between ligand, receptor and heparan sulfate(HS). Mutations in the extracellular region of this receptor affect the balance between proliferation and differentiation of osteoprogenitor cells, leading to craniosynostosis as Apert Syndrome (AS). We postulate that the degradation of HS in periosteal tissue in patients with AS can modify the gene expression profile and modulate cell behavior. Based on previous evidence we propose that the treatment with an enzyme that degrades HS, as Idursulfase, in periosteal tissue of patients with AS, could be affect the formation of the ternary complex (FGF / FGFR / HS), triggering changes in gene profiles expression in several molecular pathways, regarding their basal state with the mutated receptor.

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