Yale University researchers have moved a step closer to unravelling the mystery behind the oft-fatal rupturing of blood vessels in the brain, scientifically known as aneurysms, on the back of an international study.
Lead researchers Professor Murat Gunel and Sterling Professor Richard Lifton joined forces with a Howard Hughes Medical Institute investigator to scan the genomes of over 2,000 individuals suffering from intracranial aneurysms along with 8,000 healthy subjects.
The researchers found three chromosome segments, or loci, where common genetic variations could create significant risk for ruptured aneurysms, which in turn cause strokes.
Even though the subjects had come from hospitals in Finland, the Netherlands and Japan, the results were similar in all groups, suggesting that that such variations increase risk among diverse human populations.
The researchers believe that their findings may pave the way for 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," Nature magazine quoted Gunel as saying.
The Yale research team said that the risk of aneurysm increased with the number of risk variants, or alleles.
According to them, people with the highest number of risk alleles tripled their risk of an aneurysm.
"These findings provide fundamental insights into the genetic and biochemical changes that cause this devastating brain disease, providing hope that we may also be able to provide preventive therapy before rupture occurs," Lifton said.
The researchers revealed that their results implicated variations in the gene SOX17, which is known to play a crucial role in the early development and repair of endothelial cells that make up the arterial walls of blood vessels.
"These variations may interfere with the ability to produce cells that repair damage to the blood vessels, suggesting a path forward for developing new approaches to prevention," Gunel said.