Molecular characteristics of the KCNJ5 mutated aldosterone-producing adenomas

Somatic ATP1A1, ATP2B3, and KCNJ5 mutations in aldosterone-producing adenomas.

Aldosterone-producing adenomas (APAs) cause a sporadic form of primary aldosteronism and somatic mutations in the KCNJ5 gene, which encodes the G-protein-activated inward rectifier K(+) channel 4, GIRK4, account for ≈40% of APAs. Additional somatic APA mutations were identified recently in 2 other genes, ATP1A1 and ATP2B3, encoding Na(+)/K(+)-ATPase 1 and Ca(2+)-ATPase 3, respectively, at a com...

Editorial Commentary Mutations of the Potassium Channel KCNJ5 Causing Aldosterone-Producing Adenomas One or Two Hits?

Primary aldosteronism is the most common cause of secondary hypertension and is associated with a significant increase in cardiovascular and cerebrovascular morbidity.1 The most common forms of primary aldosteronism are aldosterone-producing adenomas (APAs) and idiopathic hyperaldosteronism with APA responsible for 30% to 50% of cases.1 Recently discovered somatic mutations of the potassium (K ...

Mutations of the potassium channel KCNJ5 causing aldosterone-producing adenomas: one or two hits?

Primary aldosteronism is the most common cause of secondary hypertension and is associated with a significant increase in cardiovascular and cerebrovascular morbidity.1 The most common forms of primary aldosteronism are aldosterone-producing adenomas (APAs) and idiopathic hyperaldosteronism with APA responsible for 30% to 50% of cases.1 Recently discovered somatic mutations of the potassium (K ...

Complementary somatic mutations of KCNJ5, ATP1A1, and ATP2B3 in sporadic aldosterone producing adrenal adenomas.

Aldosterone-Producing Adenomas

Unilateral primary aldosteronism (PA) is a common surgically curable cause of secondary hypertension. Adrenal glands removed for unilateral PA display histological heterogeneity. Recently, gain-of-function somatic mutations in KCNJ5, ATP1A1, ATP2B3, CACNA1D, and CTNNB1 have been found in 50% to 80% of aldosterone-producing adenomas (APAs). These gain-of-function mutations provide plausible mech...