There is news that promises to shake the world of medicine: researchers from Queen Mary University of London have discovered a genetic variant that causes a common type of hypertension. And they also found a remedy.
Hypertension, a sneaky enemy
Hypertension, famously known as high blood pressure, is a common health problem. If left unmanaged, it can significantly increase the risk of heart attacks, strokes and other cardiovascular problems. Although it is a manageable condition, it often requires a lifelong pharmacological path. One of the most common causes of hypertension isaldosteronoma: small benign tumors that develop in the adrenal glands can interrupt the production of the hormone aldosterone, a regulator of salt levels in the body. But diagnoses and treatment can be complex: fluctuating levels of aldosterone are not apparent unless the patient has multiple blood tests at different times of the day.
CADM1 and hypertension, the discord gene
This is where the discovery of the English researchers comes into play. They have identified a genetic variant, called CADM1, found in nodules of the adrenal glands. A mutation of this gene interferes with a protein that has the same name as it. A protein that normally prevents intercellular signals telling you to stop producing aldosterone. Result? Hormone levels rise, salt levels rise, and hypertension appears.
Hypertension, from the laboratory to the operating room
But that is not all. The researchers also tested a possible remedy: the removal of one of the adrenal glands. This operation made it possible to correct the aldosterone imbalance and, consequently, hypertension. In operated patients, even those with severe and drug-resistant hypertension, no further drug therapy was required for years.
The team of researchers is convinced that this procedure can be a panacea for people suffering from this type of hypertension, which is difficult to diagnose and treat. For a more precise diagnosis, they suggest 24-hour urine tests to measure aldosterone fluctuations over time, instead of the usual blood tests that may not reveal crucial information. They are also currently considering even less invasive interventions that remove only the small nodules rather than removing the entire adrenal gland.
Next steps
The research, published in the journal Nature Genetics (I link it to you here), opens new horizons in the treatment of hypertension. The future seems to promise a farewell to pills, in short. Maybe with a little help from a scalpel?