A gene that reduces the risk of stroke in young and middle-aged adults has been discovered.
Researchers from Royal Holloway, University of London, together with an international team, have found that people with a specific variant of a gene, known as PHACTR1, face reduced risk of suffering cervical artery dissection, which is caused by a tear in an artery that leads to the brain.
The new discovery could lead to new treatments and prevention strategies for the disease, which is a major cause of stroke in young adults. The same gene variant has also been identified as a protector against migraines and affects the risk of heart attack.
Professor Pankaj Sharma, said that it was an important breakthrough, and the findings would provide with a greater understanding of how this region of the genome appeared to influence key vascular functions, which could have major implications for the treatment of these severe and disabling conditions.
In the largest study of its kind ever undertaken, researchers from around the world screened the entire genome of 1,400 patients with cervical artery dissection, along with 14,400 people without the disease. Cervical artery dissection could lead to compression of adjacent nerves and to blood clotting, potentially causing blockage of vessels and brain damage.
Professor Sharma added that further genetic analyses and worldwide collaborations of this kind provides hope of pinpointing the underlying mechanisms that cause stroke.
The study is published in the journal Nature Genetics.