Genetic mutation can cause high blood pressure

7 Feb 2018

Researchers have uncovered a new genetic cause of high blood pressure.

University of Queensland scientists were among an international collaboration that investigated the cause of a genetic condition known as primary aldosteronism, which causes high blood pressure.

UQ’s Endocrine Hypertension Research Centre Director Professor Michael Stowasser said researchers had spent many years trying to uncover the cause of a familial variety of the condition, first discovered by UQ Emeritus Professor Richard Gordon in the 1990s.

“Now scientists in Germany headed by Dr Ute Scholl have cracked the genetic code,” Professor Stowasser said.

“As well as discovering the genetic mutation which causes this strain of primary aldosteronism, we also found for the first time that an anion channel, in this instance the chloride channel, is involved.

“The adrenal cells work by opening and closing channels on the surface of the cells, so they can let in or out ions like potassium, calcium and chloride.

“In this instance, we found the chloride channel tended to be inappropriately open in these cells, causing the cells to make too much of the hormone aldosterone, in turn causing high blood pressure.”

Professor Stowasser said knowing the cause of the condition would allow scientists to develop therapeutics to close the chloride channel and provide better treatments for patients.

The research has been published in Nature Genetics.