Somatic Mutations Associated with Aldosterone-Producing Adenomas (APAs)

TL;DR

This paper reviews genetic mutations linked to aldosterone-producing adrenal tumors that cause high blood pressure.

Contribution

The paper provides a comprehensive review of somatic mutations associated with aldosterone-producing adenomas over the past decade.

Findings

Somatic mutations in APAs are linked to increased intracellular hormone production.

These mutations are a key cause of secondary hypertension from adrenal tumors.

The review highlights the genetic basis for curable forms of hypertension.

Abstract

Hypertension is a critical health concern as it affects millions of people worldwide and leads to increased risk factors for other diseases such as cardiovascular diseases and stroke. Hypertension is commonly categorized into primary hypertension and secondary hypertension, with the latter frequently curable when caused by the presence of a benign adrenal adenoma that produces excessive adrenal hormones. The incidence rate of these adrenal adenomas is relatively high, in keeping with the hyperplastic/hypermutable characteristic of the adrenal gland. One of the most common functional adrenal adenomas are the aldosterone-producing adenomas (APAs), which develop from the adrenal cortex and, as per the name, produce excessive amounts of the adrenal hormone aldosterone, leading to hypertension. Investigations of genetic causes of these adenomas have revealed that the de novo somatic mutations that commonly cause the increase in aldosterone production mostly involve changes in intracellular concentration. Herein, we review the somatic genetic alterations that have been reported in APAs over the decade.

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