Somatic Mutations in MCOLN3 in Aldosterone-Producing Adenomas cause Primary Aldosteronism.
Desmaré van Rooyen, Sascha Bandulik, Grace Coon, Miriam Laukemper, Chandan Kumar‐Sinha, Aaron M. Udager, Chaelin Lee, Heather Wachtel, Debbie L. Cohen, James Matthew Luther, Thomas J. Giordano, Adina F. Turcu, Richard Warth, William E. Rainey, Juilee Rege
This study identifies somatic MCOLN3 mutations in aldosterone-producing adenomas that disrupt calcium regulation and lead to increased aldosterone production in primary aldosteronism.
bioRxiv · Oct 20, 2024 · PreprintGenetics