International group led by a TASSA member identified genetic risk factors for intracranial aneurysms
An aneurysm is a weakening and swelling of an artery, and can happen in both the brain and other parts of the body. An intracranial (which means inside the bony dome that houses and protects the brain) aneurysm in an artery that feeds the brain is a dangerous, potentially lethal, condition. It can produce a stroke either by simply bursting, or by producing large clots which break off and block blood vessels elsewhere.
An international team — led by Murat Gunel, professor of neurosurgery and neurobiology, and Richard Lifton, Sterling Professor and chair of genetics, and a Howard Hughes Medical Institute investigator — scanned the genomes of more than 2,000 individuals suffering from intracranial aneurysms along with 8,000 healthy subjects in a study conducted in Yale University. They discovered three chromosome segments, or loci, where common genetic variations can create significant risk for ruptured aneurysms, which in turn cause strokes. The subjects came from hospitals in Finland, the Netherlands and Japan, and the results were similar in all groups, indicating that these variations increase risk among diverse human populations.
The findings, published in December 2008 issue of Nature Genetics, could lead to new screening tests to identify hundreds of thousands of people at risk for strokes caused by bleeding and point to new therapies that might be able to strengthen blood vessels in the brain before they burst.
"Even though we have made significant strides in treating unruptured aneurysms, until now we have not had an effective means of identifying the majority of individuals at risk of developing this deadly problem. These genetic findings provide a starting point for changing that equation," Prof. Gunel said, according to Yale Univerity press relase.
Kaya Bilguvar, a Turkish physician who works as an associate research scientist, in Prof. Murat Gunel’s laboratory was first author of the paper. The work was featured in BBC and CNN. We congratulate Prof. Gunel and Dr. Bilguvar for their work and wish success in their future endeavors.