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Home » Blog » Researchers Discover Gene Mutation and Treatment for Common Type of High Blood Pressure
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Researchers Discover Gene Mutation and Treatment for Common Type of High Blood Pressure

Rudrakshi Gupta
Rudrakshi Gupta
Last updated: 2023/06/13 at 3:09 PM
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Gene Mutation treatment and common type of blood pressure
Gene Mutation treatment and common type of blood pressure

Unilateral Adrenalectomy Proven to Cure Hypertension Caused by Aldosterone-Producing Nodules

In a groundbreaking study published in the prestigious journal Nature Genetics, researchers have made a significant breakthrough in understanding and treating a common form of high blood pressure. The study reveals that a specific gene mutation found in benign nodules in the adrenal glands is responsible for causing hypertension in a significant number of patients. Furthermore, the researchers have identified a potential cure for this form of hypertension through a surgical procedure called unilateral adrenalectomy, which involves removing one of the two adrenal glands.

Hypertension, or high blood pressure, affects millions of people worldwide and is a leading risk factor for heart attacks and strokes. However, the cause of hypertension is often unknown, leading to lifelong treatment with medications. This new research sheds light on a specific subgroup of hypertensive patients who have a gene mutation affecting the production of aldosterone, a hormone that regulates salt levels in the body.

The study, conducted by a team at Queen Mary University of London, discovered that a small benign nodule occurring in approximately one out of every twenty individuals with hypertension was the root cause of the condition. These nodules were found to generate excessive amounts of aldosterone, resulting in salt overload and hypertension during peak periods.

The researchers identified a gene mutation within these nodules that led to the intermittent overproduction of aldosterone. This mutation affects a protein called CADM1, disrupting cellular communication and preventing the signaling that should cease aldosterone production. This variability in hormone release throughout the day made it challenging for clinicians to diagnose patients with this specific gene mutation.

The breakthrough came when the first patient in the study exhibited hormone level fluctuations during a clinical trial for difficult-to-treat hypertension. This discovery prompted further investigation, leading to the identification of the gene mutation and the potential treatment option.

Unilateral adrenalectomy, the surgical removal of one adrenal gland, was found to be an effective cure for hypertension caused by aldosterone-producing nodules. Following the procedure, patients who previously experienced severe hypertension despite treatment with multiple drugs saw their blood pressure normalize, eliminating the need for ongoing medication. Several years of observation revealed no recurrence of hypertension in these patients.

It is estimated that less than 1% of people with hypertension caused by aldosterone have been identified due to the current lack of routine aldosterone measurements. The researchers recommend a 24-hour urine test for aldosterone as a more effective diagnostic tool, which would help identify more individuals living with undiagnosed hypertension.

Professor Morris Brown, co-senior author of the study and Professor of Endocrine Hypertension at Queen Mary University of London, expressed his enthusiasm for the findings, stating, “This story illustrates the benefits of the virtuous circle of Science and Medicine. Most patients consent to our undertaking non-routine molecular analyses of their surgical samples, from which we discover how their hypertension was caused and how to cure it in future patients.”

The researchers are now exploring whether cauterization of the aldosterone nodules can serve as an alternative to surgical removal of the entire adrenal gland, as the nodules in this study were found to be small.

This groundbreaking research provides hope for individuals living with hypertension caused by aldosterone and paves the way for more accurate diagnosis and effective treatment options. As medical science continues to unravel the mysteries of various diseases, breakthroughs like this one bring us closer to a healthier future for all.

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TAGGED: BLOOD PRESSURE, Express hunt, gene mutation, health reserch, India, News
Rudrakshi Gupta June 13, 2023
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