Referenced in: none

Automatically associated channels: Cav1.3 , Kir3.4

Title: Somatic mutations of the ATP1A1 gene and aldosterone-producing adenomas.

Authors: Celso E Gomez-Sanchez, Maniselvan Kuppusamy, Elise P Gomez-Sanchez

Journal, date & volume: Mol. Cell. Endocrinol., 2014 Dec 10 , ,

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/25496839

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.