Na/K Pump Mutations Associated with Primary Hyperaldosteronism Cause Loss of Function.

ABSTRACT: Primary hyperaldosteronism (Conn's syndrome), a common cause of secondary hypertension, is frequently produced by unilateral aldosterone-producing adenomas that carry mutations in ion-transporting genes, including ATP1A1, encoding the Na/K pump's α1 subunit. Whether Na/K pump mutant-mediated inward currents are required to depolarize the cell and increase aldosterone production remains unclear, as such currents were observed in four out of five mutants described so far. Here, we use electrophysiology and uptake of the K⁺ congener ⁸⁶Rb⁺, to characterize the effects of eight additional Na/K pump mutations in transmembrane segments TM1 (delM102-L103, delL103-L104, and delM102-I106), TM4 (delI322-I325 and I327S), and TM9 (delF956-E961, delF959-E961, and delE960

SUBMITTER: Meyer DJ 

PROVIDER: S-EPMC6779590 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature