Salt homeostasis and its disorders

Our ongoing projects mostly consist in elucidating some aspects of the regulation of Na+ or Cl transporters and their effects on overall NaCl homeostasis. Ongoing projects concern the identification of the molecular determinants contributing to the high phenotype variability (severe, mild, transient) of the salt-losing Bartter and/or Gitelmam syndromes (BS and GS). Special emphasis is placed on unraveling the protein networks involved in the regulation of 2 NaCl transporters, NKCC2 and NCC, on elucidating the molecular pathways that regulate NKCC2 and NCC mutants, and on investigating the molecular mechanisms responsible for the transient nature of BS in carriers of MAGED2 (a NKCC2 regulator) mutations. We are also characterizing further the novel Na+ transport system that contributes to intercalated cell-dependent salt secretion in the collecting duct and involves the basolateral NKCC1 and the apical H,K-ATPase type 2 (HKA2).