Rare mutations may help explain aneurysm risk

An innovative approach to genome screening has provided clues about rare mutations that may make people susceptible to brain aneurysms, according to preliminary research presented at the American Stroke Association’s International Stroke Conference 2012. For the first time, scientists applied a process called whole exome sequencing to seek gene mutations in families in which multiple relatives have intracranial aneurysms, a condition in which weakened, ballooned-out areas in arteries of the brain can rupture and cause a stroke. Instead of sequencing the entire genome, whole exome screening focuses on the small portion of the genetic blueprint that provides instructions for making proteins, allowing researchers to look for rare variations in the genetic code. “For families with many people affected, it may be likely that a rare mutation leads to a problem in blood vessel structure or function that puts them at much higher risk,” said Joseph P. Broderick, M.D., lead author of the study.