Enhanced Ca²⁺ signaling, mild primary aldosteronism, and hypertension in a familial hyperaldosteronism mouse model (Cacna1h^M1560V/+ ).

ABSTRACT: Gain-of-function mutations in the CACNA1H gene (encoding the T-type calcium channel Ca_V3.2) cause autosomal-dominant familial hyperaldosteronism type IV (FH-IV) and early-onset hypertension in humans. We used CRISPR/Cas9 to generate Cacna1h^M1560V/+ knockin mice as a model of the most common FH-IV mutation, along with corresponding knockout mice (Cacna1h^-/- ). Adrenal morphology of both Cacna1h^M1560V/+ and Cacna1h^-/- mice was normal. Cacna1h^M1560V/+ mice had elevated aldosterone:renin ratios (a screening parameter for primary aldosteronism). Their adrenal Cyp11b2 (aldosterone synthase) expression was increased and remained elevated on a high-s

SUBMITTER: Seidel E 

PROVIDER: S-EPMC8092574 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature