Scientists in the UK have discovered a gene variant that causes a common type of high blood pressure – and most importantly, found a cure. A simple surgical procedure saw patients with previously severe hypertension needing no drugs or further treatment for years afterwards.
Hypertension, or high blood pressure, is a common ailment that, if left untreated, greatly increases the risk of heart attacks, strokes and other cardiovascular problems. Thankfully, it’s a manageable condition, often requiring a lifelong drug routine.
One of the most common causes is what’s called an aldosteronoma. These small, non-cancerous tumors form in the adrenal glands and can interrupt the production of a hormone called aldosterone, which regulates salt levels in the body. But diagnosing this is tricky, because the fluctuating levels don’t become apparent unless a patient has multiple blood tests at different times of the day.
In the new study, scientists at Queen Mary University of London and Barts Hospital identified a gene variant within the nodules in the adrenal gland that causes this problem. A mutation in a gene called CADM1 affects the protein of the same name, which prevents signals between cells that say to stop making aldosterone. As such, levels of the hormone rise, which leads to levels of salt rising and eventually hypertension follows.
The researchers also investigated a cure for the condition. Removing one of the adrenal glands was found to correct the imbalance of aldosterone and as such their hypertension. In the years after the surgery patients required no drugs or other treatments, even when their hypertension had previously been severe and resistant to drugs.
The team says that this treatment could be a literal lifesaver for people with this form of hypertension, which is hard to diagnose and treat. On the diagnosis side of things, the researchers also recommended 24-hour urine tests to measure fluctuations of aldosterone over time, rather than one-off blood tests which can miss that vital clue.
The team is now investigating whether the tiny nodules could be burned off instead of needing the whole adrenal gland to be surgically removed.
The research was published in the journal Nature Genetics.
Source: Queen Mary University of London