Cellular pathology of the mutated plasma membrane Ca2+ atpase ATP2B3 found in adrenal adenomas

Abstract

Primary aldosteronism, an uncontrolled overproduction of the mineralocorticoid aldosterone in the adrenal gland, is causative for elevated blood pressure in 10% of all hypertensive patients. Recently, somatic mutations of the plasma membrane Ca2+ ATPase ATP2B3 have been identified in adrenal aldosterone-producing adenomas (APA) causing primary aldosteronism in humans. This study aimed at investigating the mechanisms that link a mutation of ATP2B3 (del425/426) to increased aldosterone levels. As a cellular model, NCI-H295R cells originating from a human adrenal carcinoma were used.