Genetic analysis yields hypertension clue

Researchers are inching closer to figuring out why people are genetically prone to hypertension, a condition that affects a billion people around the globe.

The discovery that may get us there: A previously unknown genetic mechanism that regulates blood pressure. Yale University scientists led by Richard Lifton working with peers from 10 different countries and 17 U.S. states came up with the finding. Details are published online in the journal Nature.

Understanding the genetic causes of hypertension could be big. These discoveries take years to validate, but knowing all the genetic triggers that lead to hypertension is important. Those findings give scientists new treatment targets and increase the eventual chance that researchers will figure out how to counter any genetic malfunction with a high-tech drug to reverse it. But tests on animals and many more people must take place, first. And for now, such a drug is far from reality.

Lifton, who chairs Yale's department of genetics, and his team made their discovery by studying 41 families who suffer from a rare form of hypertension that causes excess potassium levels in the blood. They used exome sequencing, analyzing the makeup of all of the families' genes, and discovered mutations in either of the two genes that cause the disease in affected family members. Lifton and his team found one mutated gene--CUL3--in almost all patients who had the hypertension but not in their parents. The other gene--KLHL3--turned out to be either dominant or recessive. Typically both genes interact to help other proteins to degrade, and help balance the secretion of potassium and salt reabsorption in the kidneys, the researchers say. No one thought before that they also regulated blood pressure, but their absence appears to stop the kidneys from limiting salt reabsorption, which leads to hypertension.

Subsequent work will explore the ways these genes affect how the kidneys reabsorb sodium.

- here's the release
- read the journal abstract

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