ATP1A1

Mutations in the ATP1A1 gene have been found to cause aldosterone-producing adenomas, which are noncancerous (benign) tumors that form in the adrenal glands. The genetic changes involved in these tumors, called somatic mutations, are acquired during a person's lifetime and are present only in adrenal gland cells that give rise to the tumor. Changes in the ATP1A1 gene account for approximately six percent of cases of aldosterone-producing adenoma.

ATP1A1 gene mutations impair the Na⁺/K⁺ ATPase's normal function. The abnormal pumps allow sodium or hydrogen (H⁺) ions to enter the cell. The abnormal flow of these ions increases aldosterone production, resulting in excess aldosterone and leading to high blood pressure (hypertension) and an increased risk of heart attack and stroke. Changes in adrenal gland cells due to impaired Na⁺/K⁺ ATPase function also increase cell growth and division (proliferation), which promotes adenoma formation.

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