Gene causing severe high blood pressure also offers kidney protection, study finds

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A groundbreaking study led by Dr. Enno Klußmann of the Max Delbrück Center and the DZHK reveals a mutated PDE3A gene that, while causing severe hypertension, paradoxically offers protective benefits to the kidneys.

This research opens a new avenue in the study of hypertension and its effects on vital organs, suggesting the possibility of innovative therapies.

The Good and the Bad of PDE3A Mutation

The mutated PDE3A gene is linked to an extremely rare genetic condition called Hypertension and Brachydactyly (HTNB), which causes elevated blood pressure and shorter fingers.

Last year, Klußmann’s team discovered that this mutation not only causes severe hypertension but also protects the heart from hypertension-induced damage.

Intrigued by the dual nature of the mutation, the team delved deeper and studied its effects on kidneys using a female patient and rat models that have the same mutated gene.

Surprisingly, they found that despite the elevated blood pressure levels, the kidneys function normally.

They demonstrated that secretion of the hormone-like enzyme renin is suppressed in the patient, keeping the aldosterone levels normal and thus avoiding kidney damage.

The mutated PDE3A gene remains an enigma, causing severe hypertension and vascular damage, especially in the brain, while offering protection to the heart and kidneys.

It leads to a hyperactive enzyme whose working mechanism is not yet fully understood.

Understanding the protective aspects of this mutation could pave the way for new treatments that protect the kidneys from hypertension-induced damage.

As Klußmann puts it, “Now we want to examine the protective effect of the mutated PDE3A gene and see if we can mimic it with appropriate therapeutic agents.”

The study presents a compelling case for further research into how the PDE3A mutation can be leveraged therapeutically.

One of the goals will be to develop medications that can mimic the mutation’s protective effects, potentially helping a broader range of patients suffering from hypertension to avoid chronic kidney disease.


This study adds a new layer to our understanding of hypertension, revealing a mutated gene that has both harmful and protective effects.

While it does pose serious risks, understanding its mechanisms could open up new vistas in the treatment of hypertension and its associated complications like kidney damage.

Further studies are essential, but the early indications are promising for the development of innovative therapeutic approaches.

If you care about kidney health, please read studies about Common heartburn drugs linked to increased risk of kidney disease and findings of Kidney risks of rosuvastatin: a study on a cholesterol-lowering drug.

about kidney health, please read studies about the drug that prevents kidney failure in diabetes, and drinking coffee could help reduce the risk of kidney injury.

The research findings can be found in Kidney International.

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