Glucocorticoid-remediable aldosteronism

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Abstract

Glucocorticoid-remediahle aldosteronism is an autosomal dominant cause of human hypertension. Recent work has elucidated the molecular basis of this disorder: glucocorticoid-remediable aldosteronism results from fusion of regulatory sequences of the steroid 11β-hydroxylase gene to coding sequences of the aldosterone synthase gene. This chimeric gene arises as a gene duplication resulting from unequal crossing over between these two genes. The consequence of this mutation is ectopic expression of aldosterone synthase enzymatic activity in adrenal fasciculata, leading to dysregulation of mineralocorticoid secretion and hypertension.

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