While researching a special hereditary hypertension called PHAII, researchers at Yale School of Medicine have found that there are mutations in both genes. We have analyzed 20 families from all over the world who, in addition to increasing blood pressure, have detected difficulties to expel hydrogen and potassium ions.
Therefore, it seems that the origin of the disease is in both genes. Both genes belong to a family of newly identified proteins, which by adding phosphate groups regulate the activity of other proteins.
Both proteins are found in the renal part responsible for the regulation of salt, potassium and pH. As a result of these proteins, blood pressure increases, so in the kidneys more salt is absorbed than normal and less potassium and hydrogen is secreted than normal.
Hypertension affects a quarter of the adult population and can be very dangerous because it can cause a heart or mental attack or kidney damage. With the discovery of genes we expect a better understanding of hypertension and the search for more effective treatments.