Seventeen genetic abnormalities that cause intracranial aneurysms identified

According to statistics, almost three per cent of the world's population is at risk of developing intracranial aneurysm, a kind of hemorrhage.

By: Jahnavi Sarma | | Updated: December 9, 2020 9:40 am

This multipronged disease, whose evolution depends on genetic, congenital and environmental factors, is indeed complex to apprehend. @Shutterstock

An intracranial aneurysm is a localized dilation of a blood vessel, which forms a fragile pocket in the brain. Rupture of this aneurysm can be fatal. According to statistics, almost three per cent of the world’s population is at risk of developing this kind of haemorrhage. Every year, five out of every 100,000 people experience a rupture of an intracranial aneurysm and only very rapid and highly specialized surgical management can hope to save their lives. In the framework of the International Stroke Genetics Consortium, a team led by the University of Geneva (UNIGE), the University Hospitals of Geneva (HUG) and the University of Utrecht is studying the genetic determinants of aneurysms in order to better understand the different forms of the disease and to assess individual risk. Also Read - Beware! Smoking daily can put you at risk of fatal stroke

Understanding the complexities

The research team will try and understand the complexities via the examination of the genome of more than 10,000 people suffering from aneurysms compared to that of 300,000 healthy volunteers. They have so far identified 17 genetic abnormalities that are notably involved in the functioning of the vascular endothelium, the inner lining of blood vessels. In addition, the scientists discovered a potential link between these genetic markers and anti-epileptic drugs, making it possible to consider the use of certain drugs in the management of the disease. The results are published in the journal Nature Genetics. Also Read - Difference in blood pressure between arms linked to greater early death risk

According to researchers, it is not only essential to better understand the genetic basis, inherited or otherwise, governing the risk of developing the disease, but also to distinguish between the different forms of the disease and its severity. This will allow experts to detect people at risk and offer them the most appropriate treatment. This multipronged disease, whose evolution depends on genetic, congenital and environmental factors, is indeed complex to apprehend. Therefore, the researchers are emphatic that the tiny variations that make it up must be deciphered. Also Read - UCLA scientists reveal how COVID-19 virus increases stroke risk

11 new variations identified

The work carried out in Geneva and Utrecht is the largest genetic study in the world in the field of intracranial aneurysms. The DNA of more than 10,000 patients was examined and compared with that of 300,000 volunteers: eleven new regions of the genome — compared with six previously — were found to be associated with the disease. Each of these DNA variations causes a slight increase in the risk of an intracranial aneurysm. Thus, their accumulation can, together, constitute a significant risk.

Abnormalities related to endothelial cells

Most of these genetic abnormalities appear to be related to the functioning of the endothelial cells that line the inside of blood vessels and usually make them robust. Researchers say that these cells have long been suspected of being responsible for aneurysms but now they have evidence that can lead to possible markers of instability that could indicate whether the aneurysm is stable, healed, or at high risk of adverse outcomes.

High Bp, smoking also behind intracranial aneurysm

In addition, this research shows that a genetic predisposition to high blood pressure and smoking play an important role in the development of an intracranial aneurysm. If these risk factors were already known from a clinical and epidemiological point of view, we now have the genetic evidence. Another thing that the researchers noticed was that the protein structures of some of the identified genes are linked to antiepileptic drugs. They do not yet know whether this effect is positive or negative, but it opens up the possibility for pharmacological treatments, potentially less invasive than the surgical approaches is being currently used. The scientists will now work on modelling the disease, both biologically and therapeutically, to offer physicians a medical decision support system that will help determine potential management protocols based on each person’s genetic data.

(With inputs from Agencies)

Published : December 8, 2020 12:34 pm | Updated:December 9, 2020 9:40 am

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