A temporary gene pattern may help explain neck artery tears that cause one in five strokes in people aged under 55.
The findings could help identify people at risk of cervical artery dissection and inform ways to prevent strokes in younger adults.
A cervical artery dissection is a tear in the wall of an artery supplying blood to the brain. Blood can collect within the artery wall and cause a blockage, depriving the brain of oxygen and triggering a stroke.
Researchers at UVA Health studied 37 patients who had experienced cervical artery dissections. They compared them with healthy participants, including the patients’ spouses, friends and volunteers from the local community.
The team wanted to understand what might cause sudden artery tears in patients who had not experienced trauma.
They examined whether patients had a distinctive pattern of gene activity around the time of the dissection, similar to patterns seen during other sudden blood vessel events such as aneurysms.
They found substantial differences in the activity of 11 genes shortly after the dissections compared with the healthy participants.
Gene activity among the patients also changed over time, suggesting that the distinctive pattern was temporary.
Most of the affected genes were linked to the body’s use of haemoglobin, the substance in blood that carries oxygen around the body. Haemoglobin also plays an important role in blood clotting.
The researchers suspect that impaired oxygen transport could leave some people more vulnerable to cervical artery dissection. Haemoglobin may also trigger wider conditions in the body that increase the vulnerability of artery walls.
Andrew M. Southerland is a stroke expert at the University of Virginia School of Medicine.
He said: “Stroke is a devastating disease at any age. People suffering cervical artery dissections are often young or in the prime of their adult years and are therefore even more prone to the disabling impact of this sudden, often unexplained occurrence.
“Understanding the genetic and environmental risk factors associated with cervical artery dissection takes us a step closer to identifying those at most risk and, ideally, preventing it from occurring.”
Cervical artery dissections can happen without warning. They may be linked to minor neck trauma, including whiplash or chiropractic adjustments, as well as certain genetic disorders.
Most cases are classed as spontaneous because no clear cause can be identified.
The researchers said larger studies involving more diverse patient groups would be needed to replicate the findings and explore how the changes in gene activity may be connected to artery damage.
“This work remains highly preliminary, and we need to replicate it in other larger and more diverse groups of patients,” Southerland said.
“We are currently working with an international team of collaborators to continue studying genetic causes of cervical artery dissection and look forward to bringing these research opportunities to our patients here in Virginia and abroad.”
