Azizan EA, Poulsen H, Tuluc P, Zhou J, Clausen MV, Lieb A, Maniero C, Garg S,īochukova EG, Zhao W, Shaikh LH, Brighton CA, Teo AE, Davenport AP, Dekkers T,.Citation on PubMed or Free article on PubMed Central Activating mutations in CTNNB1 inĪldosterone producing adenomas. P, Robinson B, Alexander Iwen K, Dralle H, Walz MK, Lehnert H, Sidhu S, Akerstrom T, Maharjan R, Sven Willenberg H, Cupisti K, Ip J, Moser A, Stalberg.Overactivation of this biochemical process also increases aldosterone production, resulting in hyperaldosteronism and leading to hypertension. These abnormalities overactivate a biochemical process that increases adrenal cell growth and division (proliferation), which promotes adenoma formation. Mutations in the KCNJ5, CACNA1D, or ATP1A1 gene lead to abnormal electrical charges across cell membranes. In adrenal gland cells, this flow of ions helps control the production of aldosterone. The flow of these ions creates an electrical charge across the cell membrane, which affects certain biochemical processes. Each of the proteins produced from these genes transports certain ions across cell membranes. The genes known to be involved in aldosterone-producing adenomas have roles in balancing the amounts of positively charged atoms (ions) of sodium (Na +), potassium (K +), and calcium (Ca 2+) in cells. Only about 60 percent of affected individuals have a mutation in one of the identified genes additional unidentified genes are also thought to be involved in the condition.

Changes in other genes cause a small percentage of cases.

The most commonly mutated gene is KCNJ5, accounting for an estimated 40 percent of the tumors, followed by the CACNA1D and ATP1A1 genes, which are mutated in about 9 percent and 6 percent of aldosterone-producing adenomas, respectively. Aldosterone-producing adenomas are caused by mutations in one of several genes.

Tumor that secretes adrenaline