Researchers hit 'jackpot' linking gene mutations to high blood pressure

Researchers have identified two novel genetic mutations that can trigger hypertension in up to a third of patients suffering from a common cause of severe high blood pressure, they report in the Feb. 11 issue of the journal Science.The findings are a major step in understanding the causes of high blood pressure, which afflicts one out of every three Americans.These findings may lead to a genetic screening test for this common cause of severe hypertension. Five to ten percent of patients with severe hypertension have tumors of the adrenal gland that produce a hormone called aldosterone. Removing these tumors can cure this form of hypertension. Sifting for clues by sequencing all of the genes from these tumors, and comparing their sequences to the patients' normal DNA, the researchers found that either one of two mutations of a single gene were found in 8 of 22 tumors studied. The investigators discovered that these mutations cause both aldosterone release and tumor formation by allowing the encoded protein, a potassium channel, to conduct sodium rather than only allowing potassium to pass through the channel.
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