Gene Mutation: Hypertension’s Hidden Shield

Image source: Mid-Day English

In a ground breaking study recently published in “Kidney International,” scientists led by Dr. Enno Klussmann of the Max Delbruck Centre and the German Center for Cardiovascular Research (DZHK) have made a remarkable discovery related to hypertension and kidney health. The research reveals that individuals with a specific gene mutation, known as PDE3A, not only experience extreme high blood pressure but also benefit from a shield against kidney damage.

Dr. Klussmann, head of the Anchored Signalling Lab in Berlin, explains that despite the severe hypertension caused by this mutation, the kidneys continue to function normally even after many years of living with the condition. These findings challenge the traditional understanding that high blood pressure inevitably leads to kidney impairment.

Previously, it was uncovered that the same PDE3A gene mutation protects the heart from hypertension-induced damage. However, the brain remains vulnerable, making antihypertensive medication crucial for patients with this genetic disease. Without proper treatment, individuals with HTNB (hypertension and brachydactyly) are at risk of early death from stroke. However, achieving normal blood pressure levels with medication can be challenging.

To investigate the impact of the PDE3A mutation on kidney health, Dr. Klussmann and his team studied a female patient in Germany and utilized HTNB rat models. The patient received treatment from Dr. Stephan Walter at MVZ Nierenzentrum Limburg, a specialized kidney center. The rat models were developed by Professor Michael Bader and his team at the Max Delbruck Center. The study found that despite the presence of the PDE3A mutation, the patient’s kidneys were functioning normally, as indicated by various kidney function parameters.

Interestingly, the research team discovered that the secretion of renin, a hormone-like enzyme involved in blood pressure regulation, was suppressed in the patient’s case. Additionally, there were no signs of inflammation or fibrosis in the kidney tissue of the HTNB rat models. The study suggests that the production of a specific protein called amphiregulin, known to be damaging to the kidneys, was reduced in these cases, potentially contributing to kidney protection.

These ground breaking findings challenge the assumption that hypertension inevitably leads to kidney damage. Dr. Klussmann and his team are now focused on understanding the protective effects of the mutated PDE3A gene, with the goal of developing therapeutic approaches to mimic these effects. This advancement could provide a breakthrough in helping patients with hypertension avoid the development of chronic kidney disease.

Re-reported from the story originally published in Mid-Day English

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