Cerebral aneurysm: researchers discover a responsible gene

In Nantes, researchers have discovered a gene responsible for the cerebral aneurysm. This work is so innovative that a patent has been filed.

Between 1 and 3% of the French population carries an intracranial aneurysm. Sometimes asymptomatic, the cerebral aneurysm can also manifest as headaches, loss of balance, vision problems or intense fatigue. It is the second leading cause of dementia behind Alzheimer's disease and the leading cause of death among women. If we know that there are several risk factors such as obesity, diabetes, smoking or high blood pressure, its origin remains unclear.

Towards an anticipation of stroke?

But research teams at the Institut du thorax in Nantes have discovered a gene responsible for cerebral aneurysms. "In the people concerned, aneurysm rupture causes haemorrhage around the brain, more or less important, the consequences of which can often be very serious", explain the researchers of the Institute of the thorax and the neuro-radiologists of the CHU de Nantes. Specifically, it is the abrupt cessation of blood flow that deprives certain areas of the brain of oxygen that causes a stroke. Every year in France, 30,000 people die.

By analyzing the DNA of several members of the same family, scientists discovered the mutation of the ANGPTL6 gene in people who had a cerebral aneurysm. Analyzes were then conducted on other patients, demonstrating abnormalities in this same gene. "Today, no blood test can establish a simple diagnosis of intracranial aneurysms, the diagnosis can be made only by a brain MRI, say the researchers.The measurement of the activity of this protein, present in the blood , could therefore offer the possibility of simple and early detection of intracranial aneurysms and an assessment of the risk of rupture ". In short, this discovery could revolutionize the treatment of cerebral aneurysms, prevent ruptures and anticipate potential risks.

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