Ruptures of aneurysms: the discovery of the mutation of a gene makes prevention possible

Researchers from the Thorax Institute and the University Hospital of Nantes have just discovered the mutation of the gene that is responsible for arterial aneurysms, these dilations of vessels that can explode at any time from a certain stage. A blood test should be developed to screen for them and finally to prevent aneurysm ruptures.

It is by analyzing the DNA of several members of the same family that scientists from the Institut du thorax, in Nantes, discovered the mutation of the ANGPTL6 gene in people who have a familial form of cerebral aneurysm. Analyzes were then conducted on other patients, and found abnormalities on the same gene. The work of Nantes researchers is published in the American Journal of Human Genetics and is the subject of a patent.

Genetic origin and risk factors

An aneurysm is the malformation of an artery, which can be compared to a hernia on a tube. All arteries can theoretically one day present this malformation which, in fact, essentially affects only two types of vessels: certain arteries of the brain and the abdominal aorta, the largest artery of our body nested in the deepest part of our belly.

In both cases, the break is like a real thunderclap in a serene sky. If this occurs in the middle of the belly, the bleeding is mostly uncontrollable. In France, more than 10,000 people die each year, an aneurysm rupture. We can detect that of the abdomen with a simple examination: an abdominal ultrasound in people at risk. From now on, we will soon be able to do it also for the brain, where only an arteriography or a scanner made it possible to detect them.

Few warning signals before the break.

The arteries are solid, but tend to dilate, especially in case of risk factors: when the blood is high in cholesterol that weakens the different layers that compose them or if the pressure is high in the arteries. The sufferer feels nothing, especially as nestled deep in the belly, or the brain, this hernia has room to develop quietly over several years. There are no symptoms that can alert.
Suddenly, because the tension has increased, because the hernia is too large, or the wall in too bad condition, the bubble bursts, with the same effects as that of a tire at high speed. This is the extreme emergency because it is a massive internal bleeding. There is only a very short time for the surgeon for a long and cumbersome procedure, whereas in cold weather this surgery is much simpler

A blood test

This is why the research results of the Nantais researchers are remarkable. They have also led to a patent application which at present only concerns family forms of cerebral aneurysms. This discovery opens the door to screening for cerebral aneurysm. This genetic anomaly results in the presence of a protein in the blood that can be assayed with, eventually, a test probably easy to develop.
In people who will carry this abnormality, it will then be easy to make a cerebral MRI regularly to monitor its evolution and possibly intervene before its rupture. On the other hand, this exam is much too expensive to do systematically at everyone.

Video: Abdominal Aortic and Thoracic Aneurysms. Q&A (April 2020).