Gene Mutation Linked to High Blood Pressure

(Ivanhoe Newswire) – Yale University researchers have identified two breakthrough genetic mutations that can trigger hypertension in up to a third of patients suffering from a common cause of severe high blood pressure.

The findings are a major step in understanding the causes of high blood pressure, which affects one out of every three Americans, explained Richard Lifton, Sterling Professor and chair of the Department of Genetics, professor of internal medicine and senior author of the paper, was quoted as saying. These findings may lead to a genetic screening test for this common cause of severe hypertension, Lifton said.

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. Looking 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.

In addition to causing these adrenal tumors, inherited mutations in the same gene were also found to be the cause of a rare familial form of severe hypertension. "This gene was not on anybody's list to sequence in an investigation of this disease," Lifton said. "We really hit the jackpot."

SOURCE: Science, published online February 17, 2011