A recently found gene variant, discovered in benign blemishes in 5% of individuals with hypertension, causes an overproduction of the hormonal agent aldosterone, triggering hypertension. The condition can be treated through unilateral adrenalectomy, removing one adrenal gland. The study highlights the need for a 24-hour urine test to determine aldosterone levels for enhanced hypertension diagnosis and treatment.
Clinicians at Queen Mary University of London and Barts Hospital have determined a gene version that triggers a typical kind of high blood pressure (hypertension) and a method to treat it, brand-new research released in the journal Nature Genetics shows.
The cause is a small benign blemish, present in one-in-twenty people with high blood pressure. The nodule produces a hormone, aldosterone, that controls just how much salt is in the body. The brand-new discovery is a gene variation in some of these nodules which causes a large, however periodic, over-production of the hormonal agent.
The gene variant found today triggers several problems which makes it hard for doctors to detect some patients with hypertension. The changing release of aldosterone throughout the day is also an issue for doctors, which at its peak causes salt overload and high blood pressure.
The scientists likewise discovered that this type of high blood pressure could be treated by unilateral adrenalectomy– removing one of the two adrenal glands. Following removal, previously extreme hypertension in spite of treatment with several drugs vanished, without any treatment required through numerous subsequent years of observation.
Less than 1% of individuals with hypertension caused by aldosterone are identified because aldosterone is not consistently determined as a possible cause. The scientists are suggesting that aldosterone is measured through a 24-hour urine test rather than one-off blood measurements, which will find more people living with high blood pressure however going undiagnosed.
When physicians noticed fluctuation in his hormone levels during his involvement in a medical trial of treatments for tough high blood pressure, the preliminary client in this research study was detected.
Previous research study by the group at Queen Mary discovered that in 5-10% of people with hypertension the cause is a gene anomaly in the adrenal glands, which results in extreme quantities of aldosterone being produced. Clients with excessive aldosterone levels in the blood are resistant to treatment with the commonly used drugs for hypertension, and at increased threat of heart attacks and strokes.
Teacher Morris Brown, co-senior author of the research study and Professor of Endocrine Hypertension at Queen Mary University of London, said:
” In the 900th anniversary of Barts Hospital, this story shows advantages from the virtuous circle of Science and Medicine. A lot of patients grant our endeavor non-routine molecular analyses of their surgical samples, from which we discover how their hypertension was caused, and how to treat it in future patients. Due to the fact that the aldosterone nodules in this study were so small, we are now investigating whether brief cauterization of the blemish is an alternative to surgical removal of the entire adrenal gland.”
Reference: “Somatic mutations of CADM1 in aldosterone-producing adenomas and space junction-dependent policy of aldosterone production” by Xilin Wu, Elena A. B. Azizan, Emily Goodchild, Sumedha Garg, Man Hagiyama, Claudia P. Cabrera, Fabio L. Fernandes-Rosa, Sheerazed Boulkroun, Jyn Ling Kuan, Zenia Tiang, Alessia David, Masanori Murakami, Charles A. Mein, Eva Wozniak, Wanfeng Zhao, Alison Marker, Folma Buss, Rebecca S. Saleeb, Jackie Salsbury, Yuta Tezuka, Fumitoshi Satoh, Kenji Oki, Aaron M. Udager, Debbie L. Cohen, Heather Wachtel, Peter J. King, William M. Drake, Mark Gurnell, Jiri Ceral, Ales Ryska, Muaatamarulain Mustangin, Yin Ping Wong, Geok Chin Tan, Miroslav Solar, Martin Reincke, William E. Rainey, Roger S. Foo, Yutaka Takaoka, Sandra A. Murray, Maria-Christina Zennaro, Felix Beuschlein, Akihiko Ito and Morris J. Brown, 8 June 2023, Nature Genetics.DOI: 10.1038/ s41588-023-01403-0.
The research at Queen Mary was funded by Barts Charity and undertaken by research fellows funded by the British Heart Foundation, National Institute of Health Research, Medical Research Council and Royal Society. The group collaborated with labs in Munich, Paris and Michigan to find more people with the brand-new variant, and in Osakasayama, Japan, KL, Malaysia, and Pittsburgh, USA, to much better understand its impact on the body.
A recently discovered gene variation, discovered in benign blemishes in 5% of people with hypertension, leads to an overproduction of the hormonal agent aldosterone, triggering high blood pressure. The study highlights the need for a 24-hour urine test to determine aldosterone levels for enhanced hypertension diagnosis and treatment.
The varying release of aldosterone throughout the day is also a problem for doctors, which at its peak causes salt overload and high blood pressure. Previous research study by the group at Queen Mary found that in 5-10% of individuals with high blood pressure the cause is a gene anomaly in the adrenal glands, which results in extreme amounts of aldosterone being produced. Patients with excessive aldosterone levels in the blood are resistant to treatment with the typically used drugs for hypertension, and at increased risk of heart attacks and strokes.
