New Genetic Variant Discovered in Patients with High Blood Pressure

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Researchers have discovered that the cause of a common type of high blood pressure is a small, benign nodule found in about one in twenty people with high blood pressure.

The researchers showed that the nodule produces the hormone aldosterone, which controls the amount of salt in the body.

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A genetic variant that affects people with high blood pressure

The new discovery is a genetic variant in some of these nodules, which leads to excessive, widespread, and intermittent production of the hormone.

Writing in the journal Nature Genetics, the researchers say the newly discovered gene variant causes several problems.

This makes it difficult for doctors to diagnose some patients with high blood pressure, they added.

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Negative effects of the gene variant

According to the researchers, the variant affects a protein called “CADM1” and prevents cells in the body from “talking” to each other and saying it is time to stop making aldosterone.

The researchers noted that the problems doctors also face are fluctuations in aldosterone release throughout the day.

At its peak, this leads to excess salt and high blood pressure.

This variability explains why patients with the genetic variant cannot make a diagnosis unless they take blood tests at different times of the day.

The researchers also discovered that this type of high blood pressure can be treated with unilateral adrenalectomy, which is the removal of one of the adrenal glands.

Less than 1% of people with aldosterone-induced hypertension are identified because aldosterone is not routinely measured as a possible cause.

The researchers recommend measuring aldosterone with a 24-hour urine test rather than spot blood measurements.

This, they added, would reveal more people with undiagnosed high blood pressure.

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The dangers of aldosterone to humans

Aldosterone causes salt retention in the body, which increases blood pressure.

Patients with excess levels of aldosterone in the blood are resistant to treatment with medications commonly used for high blood pressure.

And they are more likely to suffer heart attacks and strokes, according to the medical magazine “medicalxpress”.

Professor Morris Brown, co-lead author of the study and Professor of Hypertension at Queen Mary University of London, said: “Because the aldosterone nodules in this study were very small, we are now investigating whether instantaneous cauterization of the nodule is an alternative to surgical removal of the adrenal gland. completely.”