Somatic Mutations in Primary Aldosteronism - The Most Common Cause for Secondary Hypertension
Keywords:
Primary Aldosteronism, hypertension, hyperaldosteronism, mutationAbstract
Hypertension is highly prevalent in Malaysia and even the rest of the world. Primary aldosteronism (PA) is one of the most common treatable cause of secondary hypertension. PA commonly occurs due to a unilateral aldosterone-producing adenoma (APA) or due to bilateral adrenal hyperplasia. Up to one in five resistant hypertension cases are due to PA. Therefore, there are a high number of individuals who have the potential to be cured of their hypertension. In the past decade, five genes have been found to cause excess aldosterone production in APAs which are KCNJ5, ATP1A1, ATP2B3, CACNA1D and CTNNB1. These somatic mutations have been found to activate the intracellular signalling pathway that regulates aldosterone production. Herein, we review the genetic causes of PA as a result of aldosterone-stimulating somatic mutations, the expression profile of the aldosterone-driver gene, and the associated mechanism of actions.
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