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Somatic Mutations in MCOLN3 Are Associated With Aldosterone-Producing Adenomas.

Desmaré van Rooyen1,2, Sascha Bandulik3, Grace A Coon1

  • 1Department of Molecular & Integrative Physiology (D.v.R., G.C., W.E.R., J.R.), University of Michigan, Ann Arbor, MI.

Hypertension (Dallas, Tex. : 1979)
|August 7, 2025
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Summary

New research identifies disease-causing mutations in the MCOLN3 gene linked to primary aldosteronism. These MCOLN3 gene mutations increase aldosterone production, contributing to endocrine hypertension.

Keywords:
calciumcytochrome P-450 CYP11B2hypertensionion channelmutationprimary hyperaldosteronism

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Area of Science:

  • Endocrinology
  • Genetics
  • Molecular Biology

Background:

  • Primary aldosteronism is a frequent, underdiagnosed cause of endocrine hypertension.
  • It leads to significant cardiovascular morbidity and mortality globally.
  • Adrenal lesions in primary aldosteronism often harbor somatic mutations affecting ion-transporting proteins, disrupting calcium homeostasis and increasing aldosterone production.

Purpose of the Study:

  • To investigate novel somatic variants in aldosterone-producing adenomas.
  • To characterize the functional impact of these variants on aldosterone production.

Main Methods:

  • Next-generation sequencing of aldosterone-producing adenomas.
  • Electrophysiological studies, calcium measurements, gene expression, and steroid quantification in HAC15 cells.

Main Results:

  • Three novel somatic MCOLN3 variants (p.Y391D, p.F415I, p.N411_V412delinsI) were identified in primary aldosteronism patients.
  • Expression of mutated MCOLN3 in HAC15 cells caused a gain-of-function, leading to cell depolarization, calcium influx, and increased aldosterone synthase expression and production.

Conclusions:

  • This study reports the first disease-causing MCOLN3 mutations in humans.
  • Mutated MCOLN3 is implicated as a driver of dysregulated aldosterone production in primary aldosteronism.