A unique pair of gene variants has been discovered that causes hypertension in pregnancy, a new global study has revealed.
The research, led by researchers from Queen Mary University of London and St Bartholomew’s Hospital, UK, builds on their previous studies that led to the discovery of gene variants that cause the production of high levels of aldosterone from small adrenal nodules.
Their latest study, published in Nature Genetics, describes a new type of primary aldosteronism, which is caused by the coincidence of a unique pair of new variants that always occur together.
The patients are predominantly women, who present with sudden onset of high blood pressure and low blood potassium in the early months of pregnancy.
Working with Professor Christina Zennaro, Inserm research director at the Paris Cardiovascular Research Centre, and colleagues in Paris, they found the new variants switch on a receptor molecule in the adrenal cells, which recognises the pregnancy hormone Human Chorionic Gonadotropin (HCG).
The receptor molecule triggers a surge of aldosterone production.
Professor Morris Brown, professor of endocrine hypertension at Queen Mary University of London said: “What was particularly satisfying is that recognition of the cause of hypertension in these women enabled them to complete a successful pregnancy and that afterwards they were completely cured of hypertension by a procedure to remove the adrenal nodule – and were able to stop all their drugs.”
The research in the UK was funded by the National Institute of Health Research, their EME programme in partnership with the Medical Research Council, the British Heart Foundation and Barts Charity.
Zhou J, Azizan E, Brown M. Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause. Nature Genetics 12 August 2021
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