Stroke researchers at UVA Health have identified distinct and temporal patterns of genetic behavior during carotid artery dissection, a leading cause of stroke in young people. These unusual genetic changes could help explain the anatomy and lead to new ways to prevent potentially debilitating strokes in young people.
Andrew M. Sutherland, MD, a stroke expert at UVA Health, noted that finding ways to prevent carotid artery dissection is especially important because of the devastating effects of stroke, as well as the potential for long-term disability in young patients. Carotid artery dissection can occur without warning, and one in five strokes in people under 55 is caused by the disease.
Stroke is a serious illness at any age. People who suffer from carotid artery dissection are often young or in adulthood, making them even more susceptible to disability from this sudden and often unexplained event. Understanding the genetic and environmental risk factors associated with carotid artery dissection brings us one step closer to identifying those most at risk and, ideally, preventing its occurrence. ”
Andrew M. Sutherland, MD, MSc, Department of Neurology and Public Health, University of Virginia School of Medicine
Carotid artery dissection and stroke
A carotid artery dissection is a tear that occurs within the wall of an artery that supplies blood to the brain. These tears can cause blood to pool, causing a blockage that leads to a lack of oxygen in the brain, or a stroke. Carotid artery dissection can be caused by minor neck trauma, such as whiplash or chiropractic adjustments, or by certain genetic disorders, but most cases are considered “spontaneous” and have no apparent cause.
Dr. Sutherland and his colleagues wanted to better understand the causes of sudden artery rupture in non-traumatic patients, so they studied 37 UVA patients and compared them to healthy people, including the patients’ spouses, friends, and community volunteers.
The researchers hypothesized that patients had a “characteristic” pattern of gene activity at autopsy, similar to patterns seen in other sudden vascular events such as aneurysms. This proved to be the case, with significant differences in the activity of 11 genes found in patients immediately after autopsy compared to what was seen in healthy study participants.
Furthermore, the patients showed different gene activation patterns immediately after and after autopsy, suggesting that the characteristic gene activation is temporary. Most of these genes focused on the body’s use of hemoglobin, the substance that carries oxygen in the blood. Hemoglobin also plays an important role in clotting.
Based on these results, the researchers suspect that impaired oxygen transport may predispose people to carotid artery dissection, or that hemoglobin plays other roles, such as creating systemic conditions in the body that make arteries more vulnerable.
Scientists want to conduct further research to explore these possibilities and, if possible, find ways to prevent strokes. “This study is still very preliminary, and we need to replicate it in other larger, more diverse patient groups,” said Sutherland, of UVA’s Comprehensive Stroke Center. “We are currently working with a team of international collaborators to continue researching the genetic causes of carotid artery dissection, and we look forward to providing these research opportunities to patients in Virginia and internationally.”
Finding new ways to improve human health and more effectively prevent and treat serious conditions such as stroke is the driving mission of UVA’s new Paul & Diane Manning Institute for Biotechnology. The institute aims to accelerate how quickly discoveries in the laboratory can be translated into treatments that benefit patients in Virginia and around the world.
Publication of survey results
The researchers published their findings in a scientific journal Neurology Genetics. The research team consisted of Robert B. Ferguson, Ilana E. Green, Timothy L. McMurray, Keith L. Keene, Stephen R. Williams, Huang Qi Hsu, Stefan Bekilanoff, Hyacinth I. Hyacinth, Glenn C. Zickling, Michelle M. Sale, Bradford B. Worrall, and Sutherland.
This research was supported by American Heart Association/American Stroke Association (AHA/ASA) National Clinical Research Program 13CRP141.
sauce:
University of Virginia Health System
Reference magazines:
Ferguson, R.B. others. (2026). Gene expression profiles during early and late stages after carotid artery dissection. Neurology Genetics. DOI: 10.1212/NXG.0000000000200396. https://www.neurology.org/doi/10.1212/NXG.0000000000200396
