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Novel gene implicated in adrenal tumors and severe hypertension

Tobias J.E. Carling, MD, PhD (Damon Runyon-Doris Duke Clinical Investigator ‘10-‘13) and colleagues at Yale University School of Medicine, New Haven, identified novel genetic mutations that can give rise to tumors of the hormone-producing adrenal gland (aldosterone-producing adrenal adenoma) and severe hypertension (high blood pressure). By sequencing the genes from these tumors and comparing them to normal DNA, the researchers identified mutations in a potassium channel gene, KCNJ5. In addition to causing these tumors, they also found that inherited mutations in KCNJ5 cause a rare familial form of severe hypertension. These findings were published in the journal Science.