[Activating mutations of the parathyroid hormone and parathyroid hormone related peptide].
Parathyroid hormone (PTH) and PTH related peptide (PTHrP) have a common main receptor: type I PTH-PTHrP receptor. PTH expresses its main metabolic actions, and PTHrP part of its autocrine or paracrine actions through this receptor. Jansen chondrodysplasia is a very rare disease mainly characterized by severe metaphyseal growth disorders leading to dwarfism and hypercalcemia. The group of Jüppner from the Massachusetts General Hospital in Boston recently demonstrated mutations on the gene of the type I PTH-PTHrP receptor in five patients with Jansen chondrodysplasia. These mutations result in permanent activation of the receptor responsible for the observed hypercalcemia and bone growth abnormalities due to the disease. Therefore Jansen chondrodysplasia appears as a remarkable clinical model outlining the major role of PTHrP in bone growth regulation.
David
L
L
Département de pédiatrie, hôpital Edouard-Herriot, Lyon, France.
D000818:Animals; D004195:Disease Models, Animal; D005097:Exostoses, Multiple Hereditary / Q000235:genetics*; D006801:Humans; D051379:Mice; D009154:Mutation / Q000235:genetics*; D010281:Parathyroid Hormone / Q000235:genetics* / Q000378:metabolism; D044162:Parathyroid Hormone-Related Protein; D011506:Proteins / Q000235:genetics* / Q000378:metabolism; D044168:Receptor, Parathyroid Hormone, Type 1; D018016:Receptors, Parathyroid Hormone / Q000235:genetics*
C470121:PTHLH protein, human; D010281:Parathyroid Hormone; D044162:Parathyroid Hormone-Related Protein; D011506:Proteins; D044168:Receptor, Parathyroid Hormone, Type 1; D018016:Receptors, Parathyroid Hormone
Mutations activantes du récepteur de la parathormone (PTH) et du PTH related peptide.