Researchers identify “distinct” pattern of gene activity in cervical artery dissection patients

Andrew Southerland (Credit: UVA Health)

Stroke researchers from the University of Virginia (UVA) Health System (Charlottesville, USA) have identified a “distinct and temporary” pattern of gene behaviour during cervical artery dissections that may help to explain these dissections and could also lead to new ways for preventing potentially debilitating strokes among young patients.

Cervical artery dissections can occur without warning and are responsible for one in five strokes among people under 55 years of age, as noted by UVA Health stroke expert Andrew Southerland.

“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,” Southerland commented. “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.”

Southerland and his colleagues wanted to better understand the causes behind cervical artery dissections in patients without trauma. They examined 37 UVA patients with the condition and compared them with healthy people—the patients’ spouses or friends, or volunteers from the local community.

The researchers hypothesised that the patients would have a “signature” pattern of gene activity at the time of the dissections akin to patterns seen in other sudden vascular events like aneurysms. This proved to be the case, as the patients had substantial differences in the activity of 11 genes shortly after their dissections as compared to what was seen in the healthy study participants.

Furthermore, the patients had different gene-activation patterns shortly after their dissections than they did later on, suggesting that the distinctive gene activity was temporary. Most of these genes were focused on the body’s use of haemoglobin, leading the researchers to suspect that impaired oxygen transport could predispose people to cervical artery dissections—or that haemoglobin could be playing an alternative role, such as triggering systemic conditions in the body that predispose patients to arterial vulnerability.

Southerland and colleagues are eager to do further research to explore such possibilities and, they hope, find ways to prevent strokes as a result.

“This work remains highly preliminary, and we need to replicate it in other, larger and more diverse groups of patients,” said Southerland. “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.”

The researchers recently published their findings in Neurology Genetics.


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