Fibrous dysplasia and fibroblast growth factor-23 regulation

Curr Osteoporos Rep. 2013 Jun;11(2):65-71. doi: 10.1007/s11914-013-0144-5.

Abstract

Fibrous dysplasia (FD) is a skeletal disorder caused by activating mutations in Gsα that result in elevations in cAMP. A feature of FD is elevated blood levels of the bone cell-derived phosphaturic hormone, fibroblast growth factor-23 (FGF23). FGF23 regulates serum phosphorus and active vitamin D levels by action on proximal renal tubule cells. An essential step in the production of biologically active FGF23 is glycosylation by the UDP-N-acetyl-α-D-galactosamine:polypeptide N-acetylgalactosaminyl transferase (ppGalNAc-T3). In the absence of glycosylation, FGF23 is processed into inactive N- and C-terminal proteins by a subtilisin proprotein convertase, probably furin. Normally, most if not all circulating FGF23 is intact. In FD, C-terminal levels are elevated, suggesting altered FGF23 processing. Altered processing in FD is the result of a cAMP-dependent, coordinated decrease in ppGalNAc-T3 and an increase in furin enzyme activity. These findings, and emerging data from other diseases, suggest regulation of FGF23 processing may be a physiologically important process.

Publication types

  • Research Support, N.I.H., Intramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • DNA / genetics*
  • DNA Mutational Analysis
  • Fibroblast Growth Factor-23
  • Fibroblast Growth Factors / biosynthesis
  • Fibroblast Growth Factors / genetics*
  • Fibrous Dysplasia of Bone / genetics*
  • Fibrous Dysplasia of Bone / metabolism
  • Gene Expression Regulation*
  • Humans
  • Mutation*

Substances

  • FGF23 protein, human
  • Fibroblast Growth Factors
  • Fibroblast Growth Factor-23
  • DNA