title: Dentin noncollagenous matrix proteins in familial hypophosphatemic rickets.
abstract: Familial hypophosphatemic rickets is transmitted in most cases as an X-linked dominant trait and results from the mutation of the PHEX gene predominantly expressed in osteoblast and odontoblast. Patients with rickets have been reported to display important dentin defects. Our purpose was to explore the structure, composition and distribution of noncollagenous proteins (NCPs) of hypophosphatemic dentin. We collected teeth from 10 hypophosphatemic patients whose mineralization occurred either in a hypophosphatemic environment or in a corrected phosphate and vitamin environment. Teeth were examined by scanning electron microscopy, immunohistochemistry and Western blot analysis. An abnormal distribution (accumulation in interglobular spaces) and cleavage of the NCPs and particularly of matrix extracellular phosphoglycoprotein were observed in deciduous dentin. In contrast, it was close to normal in permanent dentin mineralized under corrected conditions. In conclusion, dentin mineralization in a corrected phosphate and vitamin D environment compensates the adverse effect of PHEX mutation.
authors.affiliation: EA 2496, Groupe Matrices extracellulaires et biominéralisation, Faculté de Chirurgie Dentaire, Université Paris Descartes, Montrouge, France.
authors.forename: Céline
authors.initials: C
authors.lastname: Gaucher
authors.forename: Tchilalo
authors.initials: T
authors.lastname: Boukpessi
authors.forename: Dominique
authors.initials: D
authors.lastname: Septier
authors.forename: Frédéric
authors.initials: F
authors.lastname: Jehan
authors.forename: Peter S
authors.initials: PS
authors.lastname: Rowe
authors.forename: Michèle
authors.initials: M
authors.lastname: Garabédian
authors.forename: Michel
authors.initials: M
authors.lastname: Goldberg
authors.forename: Catherine
authors.initials: C
authors.lastname: Chaussain-Miller
mesh_terms: D000293:Adolescent; D000328:Adult; D002113:Calcification, Physiologic; D002648:Child; D002675:Child, Preschool; D003804:Dentin / Q000378:metabolism* / Q000648:ultrastructure; D016326:Extracellular Matrix Proteins / Q000378:metabolism*; D053098:Familial Hypophosphatemic Rickets / Q000378:metabolism* / Q000503:physiopathology; D040181:Genetic Diseases, X-Linked; D006801:Humans; D007150:Immunohistochemistry; D008963:Molar / Q000378:metabolism; D014094:Tooth, Deciduous / Q000378:metabolism
chemical_list: D016326:Extracellular Matrix Proteins