Unravelling the key to hypertension

High blood pressure, or hypertension, may soon be able to be detected through genes.

Sterling Professor of Genetics Richard Lifton and his team of researchers have discovered two genetic mutations that cause high blood pressure, a condition that can cause strokes, heart attacks, heart failures, kidney disease, and early death, if left untreated. Published in the Feb. 11 issue of the journal Science, the study’s findings identified two mutations in the KCNJ5 gene, which codes for the high secretion of aldosterone, a hormone that causes hypertension.

“This is a big step,” Lifton said. “This gene was not on anybody’s list to sequence in an investigation of this disease.”

The study investigated gene mutations in 22 people with a benign tumor in the part of the body that secretes aldosterone. Eight of them had mutations in gene KCNJ5, associate research scientist Murim Choi said.

Choi said that the success of their findings relied on their use of whole exon sequencing. This research technique analyzes only the 1 percent of the genetic material that causes chronic genetic disorders. It is a quicker method to identify genes than old research mechanisms which surveyed whole genomes, Choi said.

The discovery not only proves the effectiveness of this technique, but it also has major implications in two fields, Choi said.

“In the genetic field, this discovery found the genes where mutation occurs, which code for the hormone that causes hypertension,” Choi said.

But the potential for this discovery to serve as a method for diagnosis in the medical field is its major contribution, Lifton said.

Genetic hypertension affects many people, he said, and now, with a simple blood test, a person could find out if they have the genes for hypertension.

Still, Choi said it might take five to 10 years to develop a treatment that would effectively attack the tumor.

“We may have to march down the field from gene to gene to identify other genes where rare variants are contributing to blood pressure variations,” Daniel Levy, director of the National Heart, Lung and Blood Institute’s Framingham Heart Study, said in a recent publication.

One in three Americans suffers from high blood pressure.

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