An international study, led by researchers from Queen Mary University of London and St Bartholomew’s Hospital, has found a unique pair of gene variants that causes sudden onset high blood pressure in pregnant women.
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.
Hypertension (high blood pressure) affects 30% of adults. Most cases are caused by a combination of inherited and acquired factors that require long-term treatment to prevent the complications of stroke and heart attacks.
For one in ten people with hypertension, a specific cause can be found and removed. The most common cause is a tiny benign nodule in one of the adrenals. These are glands near the kidneys that produce steroid hormones. The hormone aldosterone stimulates the kidneys to retain salt and hence increase blood pressure. As a result the condition known as primary aldosteronism typically leads to a type of hypertension which is resistant to conventional drugs, and is linked to an increased risk of stroke and heart attacks compared to other patients with hypertension.
Over the years, a research team at Queen Mary University of London and St Bartholomew’s Hospital has found a number of gene variants which cause the production of high levels of aldosterone from small adrenal nodules. Their latest study, published today in the journal Nature Genetics, is the discovery of a new type of primary aldosteronism caused by the coincidence of a unique pair of new variants which 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 a pregnancy.
In partnership with Professor Christina Zennaro, Inserm Research Director at the Paris Cardiovascular Research Center, and colleagues in Paris, it emerged that the new variants switch on a receptor molecule in the adrenal cells which recognises the pregnancy hormone Human Chorionic Gonadotropin (HCG), the same as is measured in routine pregnancy testing – and that 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.”
ENDS
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Notes to the editor
- Research paper: 'Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause’. Zhou et al. Nature Genetics. DOI 10.1038/s41588-021-00906-y.
Available here after the embargo lifts: https://www.nature.com/articles/s41588-021-00906-y
About Queen Mary University of London
At Queen Mary University of London, we believe that a diversity of ideas helps us achieve the previously unthinkable.
In 1785, Sir William Blizard established England’s first medical school, The London Hospital Medical College, to improve the health of east London’s inhabitants. Together with St Bartholomew’s Medical College, founded by John Abernethy in 1843 to help those living in the City of London, these two historic institutions are the bedrock of Barts and The London School of Medicine and Dentistry.
Today, Barts and The London continues to uphold this commitment to pioneering medical education and research. Being firmly embedded within our east London community, and with an approach that is driven by the specific health needs of our diverse population, is what makes Barts and The London truly distinctive.
Our local community offer to us a window to the world, ensuring that our ground-breaking research in cancer, cardiovascular and inflammatory diseases, and population health not only dramatically improves the outcomes for patients in London, but also has a far-reaching global impact.
This is just one of the many ways in which Queen Mary is continuing to push the boundaries of teaching, research and clinical practice, and helping us to achieve the previously unthinkable.
MRC and NIHR
The study was funded by an MRC and NIHR partnership created to support the evaluation of interventions with potential to make a step-change in the promotion of health, treatment of disease and improvement of rehabilitation or long-term care.
1. The mission of the National Institute for Health Research (NIHR) is to improve the health and wealth of the nation through research. We do this by:
· Funding high quality, timely research that benefits the NHS, public health and social care;
· Investing in world-class expertise, facilities and a skilled delivery workforce to translate discoveries into improved treatments and services;
· Partnering with patients, service users, carers and communities, improving the relevance, quality and impact of our research;
· Attracting, training and supporting the best researchers to tackle complex health and social care challenges;
· Collaborating with other public funders, charities and industry to help shape a cohesive and globally competitive research system;
· Funding applied global health research and training to meet the needs of the poorest people in low and middle income countries.
NIHR is funded by the Department of Health and Social Care. Its work in low and middle income countries is principally funded through UK Aid from the UK government.
2. The Medical Research Council is at the forefront of scientific discovery to improve human health. Founded in 1913 to tackle tuberculosis, the MRC now invests taxpayers’ money in some of the best medical research in the world across every area of health. Thirty-three MRC-funded researchers have won Nobel prizes in a wide range of disciplines, and MRC scientists have been behind such diverse discoveries as vitamins, the structure of DNA and the link between smoking and cancer, as well as achievements such as pioneering the use of randomised controlled trials, the invention of MRI scanning, and the development of a group of antibodies used in the making of some of the most successful drugs ever developed. Today, MRC-funded scientists tackle some of the greatest health problems facing humanity in the 21st century, from the rising tide of chronic diseases associated with ageing to the threats posed by rapidly mutating micro-organisms. The Medical Research Council is part of UK Research and Innovation. https://mrc.ukri.org/
Journal
Nature Genetics