Naturally-occurring mutation in the calcium-sensing receptor reveals the significance of extracellular domain loop III region for class C G-protein-coupled receptor function.

ABSTRACT:

Context

Inactivating mutations of the calcium-sensing receptor (CaSR) cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Most mutations are clustered in the N-terminal and Cys-rich regions of the extracellular domain (ECD) and seven-transmembrane domain. Disease-causing mutations are uncommon in the C terminus of ECD.

Objective

The aim of the study was to characterize the CaSR mutations causing neonatal severe hyperparathyroidism in a consanguineous family.

Methods

Parathyroid glands from the index patient were stained for CaSR protein. The CaSR gene was sequenced, mutations were recreated in CaSR cDNA, and HEK293 cells were transfected with the CaSR mutant expression vector. Cellular CaSR targeting was detected by immunoblotting and i

SUBMITTER: Dong Q 

PROVIDER: S-EPMC3050095 | biostudies-literature | 2010 Oct

REPOSITORIES: biostudies-literature