New Insights into Aldosterone-Producing Adenoma and Inherited Aldosteronism: Mutations in the K+ Channel KCNJ5

Program: Plenary
Session: L5-1-New Insights into Aldosterone-Producing Adenoma and Inherited Aldosteronism: Mutations in the K+ Channel KCNJ5
Translational
Monday, June 17, 2013: 7:55 AM-8:20 AM
Presentation Start Time: 7:55 AM
Hall D (Moscone Center)
Richard P Lifton*
Yale Univ Schl of Med, New Haven, CT
Talk Description:

Aldosterone-producing adenomas are a frequent cause of severe hypertension. We have identified recurrent somatic mutations in the selectivity filter of the potassium channel KCNJ5 that cause 40% of these tumors. These mutant channels conduct sodium, resulting in cell depolarization, the signal for aldosterone secretion and cell proliferation. When in the germline, these same mutations cause a Mendelian form of primary aldosteronism. These findings explain pathophysiology and suggest new diagnostic and therapeutic approaches to these diseases.