Center Research

XLH is the most common heritable form of rickets/osteomalacia in the United States. The disorder is characterized by renal phosphate wasting, rickets and limited growth in childhood. Osteomalacia and fractures occur in adults. At all ages and irrespective of treatment there is a high incidence of secondary hyperparathyroidism.

Dr. Demay’s CORT-supported study is focused on identifying the molecular basis for susceptibility of chondrocytes to phosphate-mediated apoptosis. This work characterizes hormone and growth factor (PTH, FGF23 and 1,25-dihydroxyvitamin D) effects on phosphate-mediated apoptosis using in vitro and in vivo models.
FGFs mediate their responses by binding to and activating a family of four receptor tyrosine kinases (FGFRs 1 – 4). FGFRs
1 – 3 have two isoforms produced by alternate splicing which differ in their ligand-binding specificities and tissue expression patterns.