Newly Discovered Gene Reduces the Risk of Stroke in Young Adults

First Posted: Nov 26, 2014 07:53 AM EST
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It turns out that there's a gene that can protect people against one of the major causes of stroke in young and middle-aged adults. Scientists have discovered a gene that could potentially hold the key to new treatments.

The gene is question is a variant of a gene, known as PHACTR1. The scientists first spotted the gene after conducting an extensive study to see what variables might influence whether or not a person was susceptible to stroke. They screened the entire genome of 1,400 patients with cervical artery dissection, which is a major cause of stroke, along with 14,400 people without the disease. Cervical artery dissection can lead to compression of adjacent nerves and to blood clotting, potentially causing blockage of vessels and brain damage.

"This is an important breakthrough," said Pankaj Sharma, one of the researchers, in a news release. "Our findings provide use with a greater understanding of how this region of the genome appears to influence key vascular functions, which could have major implications for the treatment of these severe and disabling conditions."

In the end, the scientists found that people who had a variant of a specific gene were at a reduced risk of suffering cervical artery dissection, which is caused by a tear in an artery that leads to the brain. Not only that, but the same gene variant is associated with being a protector against migraines and affects the risk of heart attack.

"Further genetic analyses and worldwide collaborations of this kind provide hope of pinpointing the underlying mechanisms that cause stroke," said Sharma. "The Bio-Repository of DNA in Stroke (BRAINS) study I am leading is creating a large stroke DNA biobank which will give an exciting opportunity to identify the genes directly linked to the condition."

The findings are published in the journal Nature Genetics.

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