Washington: A team of researchers has identified gene responsible for hereditary hypertension (high blood pressure) and at the same time a skeletal malformation called brachydactyly type E, which is characterized by unusually short fingers and toes.
After more than 20 years of research, scientists of the Experimental and Clinical Research Center (ECRC) have now identified the gene that causes this rare syndrome, which affects blood pressure so seriously that if left untreated, it most often leads to death before age fifty.
In six families not related to each other they discovered different point mutations in the gene encoding phosphodiesterase-3A (PDE3A). These mutations always lead to high blood pressure and shortened bones of the extremities, particularly the metacarpal and metatarsal bones.
This syndrome is the first Mendelian hypertension form (salt-resistant) not based on salt reabsorption but instead is more directly related to resistance in small blood vessels.
The researchers point out that hypertension in the families they examined is not linked to dietary salt intake. The consensus of researchers so far has been that too much salt in the diet damages the kidneys and drives blood pressure up.
Senior author Sylvia Bahring said that they have shown in the study that for the development of the inheritable form of hypertension only the blood vessels are of significance and not directly the kidneys.
The study appears online in Nature Genetics.
