Session: L5-1-New Insights into Aldosterone-Producing Adenoma and Inherited Aldosteronism: Mutations in the K+ Channel KCNJ5
Hall D (Moscone Center)
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.
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