New genes for hypertension

A team of Yale scientists has identified mutations in two genes that cause a rare form of hypertension. The finding has also uncovered a previously unknown metabolic pathway governing blood pressure that could offer new targets for medications.

The finding, reported in the August 10 issue of Science, identifies genes on chromosomes 12 and 17. In their mutated form they can cause increased reabsorption of salt by the kidneys and impaired secretion of potassium and hydrogen ions. This leads to a rare form of hypertension called pseudohypoaldosteronism type II.

The principal investigator on the study was Richard P. Lifton, M.D., Ph.D., professor of genetics, medicine, and molecular biophysics and biochemistry and an investigator for the Howard Hughes Medical Institute.