High blood pressure: Why short Finger signs can be – Naturopathy naturopathy specialist portal

Bilgin Turan-Syndrome – Heritable Hypertension

Hypertension is the most widespread disease in the world. Approximately every fourth person developed in the course of the life of a hypertension. Known risk factors include Obesity, lack of exercise, high salt and alcohol consumption, Smoking, Stress and sleep disorders. A German research team provides the first evidence that there is also a hereditary Form of hypertension.

Researchers of the Max Delbrück center for Molecular medicine of the Helmholtz Association found an altered Gene that contains the Blueprint for an enzyme called PDE3A. This enzyme causes according to the study, a hereditary Form of hypertension. The results of the research are published in two studies in the prestigious journals “Nature Genetics” and “Circulation”.

The presumption dates back to the 70s

The Turkish doctor Nihat Bilgin Turan conjectured already in the beginning of the 1970s, that there is a heritable Form of hypertension. He supervised a large family, in which there were always two striking characteristics: short fingers and extremely high blood pressure values. Many members of this family died before the age of 50. Birthday of a stroke. However, the assumption of inheritable hypertension has not yet been proven.

Enzyme for high blood pressure and short Finger

Only in the year 2015 – over 40 years later, decrypted by a research group led by Professor Friedrich Luft, and Dr. Sylvia Bähring the mysterious phenomenon. An inheritable changes in the Gene contains the blueprints for the enzyme Phosphodiesterase 3A, short-PDE3A. This enzyme affects the blood pressure, as well as, indirectly, the growth of bone, by which the fingers are below average short. The hereditary hypertension has been named after the Turkish doctor who discovered this connection: Bilgin Turan syndrome.

Overactive enzyme causes high blood pressure

In a recent follow-up study has now been decrypted, as the underlying Gene is mutated and how the enzyme affects the blood pressure. A Team of the study worked with genetically modified mice, carrying the said Gene. The researchers found that the enzyme, PDE3A was in the walls of blood vessels hyperactive. “These animals had compared to control animals with an extremely high blood pressure,” says Dr. Lajos Markó, along with Maria Ercu first author of the study.

Tiny changes with big impact

Another Team of the study worked with rats in which the gene mutation by using the Genschere was brought about. They changed nine base pairs in the PDE3A gene. The resulting enzyme differed only in three amino acids from the original variant. “And how in humans this tiny change increased the activity of the enzyme,” stresses Ercu.

The changes in the rats resembled the symptoms of the people with Bilgin Turan syndrome. “They suffered not only from high blood pressure, also the toes of its front legs were significantly reduced, similar to the fingers in people with the syndrome,” adds the last-author Dr. Enno Klußmann. “Our rat model provides, in my opinion, the final proof that the syndrome is caused by Mutation in the PDE3A Gene,” says the scientist.

The first potential therapy discovered

By deciphering the underlying mechanism, the first therapy Option in the case of Bilgin Turan syndrome opened already. “There is a substance called Riociguat, which is actually approved for the therapy of pulmonary hypertension”, so Klußmann. It is known that it activates an enzyme that produces a messenger substance that can slow an overactive PDE3A-reaction.

The changes in the rats, the drug showed effect. “In rats, which we had administered a derivative of Riociguat decreased the blood pressure to a normal level,” explains Klußmann. There are also other PDE3A inhibitors on the market, but these were due to severe side effects for long-term therapy is rather inadequate.

New therapy options for ordinary high blood pressure

From the study findings for the non-hereditary hypertension, the researchers reported, can be derived. “By getting to know the effects of the interactions of PDE3A with other proteins and to understand how they are involved in the Regulation of blood pressure, we will find, hopefully, new and more effective treatment for the widespread disease of hypertension,” concludes Klußmann finally. (vb)

Basic information about hypertension, see the article: hypertension: causes and treatment.

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