Somatic Mutations in <i>MCOLN3</i> Are Associated With Aldosterone-Producing Adenomas.

ABSTRACT:

Background

Primary aldosteronism is a common but underdiagnosed cause of endocrine hypertension that contributes to global cardiovascular morbidity and mortality. It is characterized by renin-independent hyperaldosteronism that originates from adrenal lesions-the majority of which are found to harbor aldosterone-driver somatic mutations in genes encoding ion-transporting proteins. These mutations disrupt intracellular calcium homeostasis, facilitating a pathological increase in aldosterone synthase expression and aldosterone production. Elucidating the exact mechanisms causing aldosterone excess in primary aldosteronism would further the development of targeted treatments and alleviate the global hypertension burden.

Methods

Next-generation sequencing analysis of formalin-fi

SUBMITTER: van Rooyen D 

PROVIDER: S-EPMC12416441 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature