It is a pathology that has been known for decades and affects approximately 5% of the population – mostly women – but about which little was known until now. Fibromuscular dysplasia, which can lead to high blood pressure, heart attacks and strokes, has just been discovered in an article by Nature Cardiovascular Research, which reveals that this disease is due to an anomaly of the ABR4 gene and that it is hereditary.
“ Research has focused a lot on this disease but it is difficult to recognize.
Fibromuscular dysplasia was identified about 80 years ago. And yet, until now, neither the causes nor the possible treatments were known. It consists of an abnormality of the wall of certain arteries: mainly narrowing of the diameter of the artery, stenosis, but also dilations, aneurysms or even tears.
If the pathology has remained under the radar for a long time, it is not for lack of interest but for technological reasons, explains Professor Jason Kovacic, cardiologist and author of this work in Nature. “ Research has focused a lot on this disease but it is difficult to recognize and diagnose. It takeshigh resolution imaging for this. Today we have scanners and MRI angiograms (which allow the analysis of the body's vessels (arteries and veins) in order to obtain precise diagnostic data, editor's note), this did not exist before and doctors had to rely on a simple ultrasound scan – which was not precise enough – or invasive angiograms carried out with catheters.“
Finally a target for treatment
By comparing biopsies and genetic sequencing of fibroblasts (the cells that line the arteries) from 83 women with fibromuscular dysplasia and 71 healthy women, the researchers identified changes in the expression of the UBR4 gene. This gene triggers a cascade reaction that alters the expression of other genes that control the body's vascular functions.
This hypothesis was confirmed in a mouse model, in which the arteries also underwent changes after alteration of the UBR4 gene. The key is finally a clue to imagine an effective treatment. With such dramatic consequences in some people, it is a disease that absolutely requires targeted treatment. Until now, we did not know what to target. Now we know what to target to try to develop a therapy.. »
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While the figure of 5% adults affected worldwide may seem impressive, there is no need to worry if you do not experience symptoms. In most people, the disease is fortunately asymptomatic.", reassures Professor Kovacic. " It is not looked for because it does not cause any problems. We believe that most people with fibromuscular dysplasia do not know they have it and for most of them it will not cause them any problems. However, about 1 in 2,000 people may suffer consequences of fibromuscular dysplasia, such as a heart attack or stroke.. »
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As to why the disease predominantly affects women, that remains an open question. This is one of the key points of the research. We assume that there must be a link with hormones such as estrogens and progesterone but we are not sure at the moment. And other factors are probably involved. »
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