Abstract
Introduction: Activating mutations of the calcium sensing receptor (CaSR) cause autosomal dominant hypocalcemia (ADH) characterized by low serum calcium, low PTH and relative hypercalciuria. 4 activating CaSR mutations also cause renal wasting of sodium, potassium and other salts (Bartter syndrome type 5). It is not clear why these 4 activating mutations have this additional phenotype. Phosphorylation of CaSR T888 by PKC constitutes an inhibitory feedback mechanism that leads to oscillations of intracellular calcium ([Ca2+]i) at 2 – 4 mM extracellular calcium ([Ca2+]o) but to a more sustained elevation of [Ca2+]i at higher concentrations. We tested for functional differences between wildtype CaSR and mutants causing ADH or Bartter Syndrome Type 5 by investigating oscillatory responses of [Ca2+]i
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