title: Somatic mutations of the ATP1A1 gene and aldosterone-producing adenomas.
abstract: Primary aldosteronism is the most common form of secondary hypertension. It affects approximately 10% of patients with hypertension and causes greater cardiovascular morbidity and mortality compared to essential hypertension of similar severity and duration. The cause of primary aldosteronism in about half of these patients is an aldosterone-producing adenoma; over half of these adenomas have mutations in one of several ion channels and pumps, including the potassium channel KCNJ5, calcium channel Cav1.3, α1 subunit of the sodium potassium ATPase, and membrane calcium ATPase 3. This review concentrates on the molecular and physiological mechanisms by which mutations of the ATP1A1 gene increase aldosterone production.
authors.affiliation: Division of Endocrinology, G.V. (Sonny) Montgomery VA Medical Center, Jackson, MS, USA; Department of Medicine-Endocrinology, University of Mississippi Medical Center, Jackson, MS, USA. Electronic address: Cgomez-sanchez@umc.edu.
authors.forename: Celso E
authors.initials: CE
authors.lastname: Gomez-Sanchez
authors.affiliation: Department of Medicine-Endocrinology, University of Mississippi Medical Center, Jackson, MS, USA.
authors.forename: Maniselvan
authors.initials: M
authors.lastname: Kuppusamy
authors.affiliation: Department of Pharmacology and Toxicology, University of Mississippi Medical Center, Jackson, MS, USA.
authors.forename: Elise P
authors.initials: EP
authors.lastname: Gomez-Sanchez
mesh_terms: D000236:Adenoma / Q000201:enzymology* / Q000235:genetics*; D000450:Aldosterone / Q000096:biosynthesis*; D000818:Animals; D006801:Humans; D008954:Models, Biological; D009154:Mutation / Q000235:genetics*; D000254:Sodium-Potassium-Exchanging ATPase / Q000737:chemistry / Q000235:genetics*
chemical_list: D000450:Aldosterone; D000254:Sodium-Potassium-Exchanging ATPase
keywords: Aldosterone-producing adenomas; Primary aldosteronism; Sodium/potassium ATPase