What is the role of glucocorticoid-remediable aldosteronism (GRA) in familial primary aldosteronism?

Updated: Mar 24, 2020
  • Author: Gabriel I Uwaifo, MD; Chief Editor: Romesh Khardori, MD, PhD, FACP  more...
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Answer

In familial forms of primary aldosteronism, the molecular basis of GRA is known. GRA is due to a mutation that results from a hybrid gene product. [3] The 11beta-hydroxylase and aldosterone synthetase genes that are normally located close to each other on chromosome 8 cross over to create a novel hybrid gene product. This hybrid gene consists of the regulatory corticotropin-responsive sequence of the 11beta-hydroxylase gene (CYP11B1) fused to the structural component of the aldosterone synthetase gene (CYP11B2). [2]


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