Research Study: Gene Expression Profiling in Brain AVM Patients
Principal Investigator: William L. Young, MD
Patients with brain arteriovenous malformations (AVM) are at high risk for a kind of stroke called intracranial hemorrhage, which is due to bleeding from ruptured blood vessels, and can cause disabling symptoms or death. Identifying genes involved in the disease process may be clinically useful if able to identify those at highest risk for bleeding, and therefore aid in treatment decisions.
We examined the pattern of gene expression in blood (i.e., gene expression profile) from 40 brain AVM patients (20 ruptured and 20 unruptured) and 20 healthy controls to determine if the expression patterns differ between groups. We observed that gene expression profiles of unruptured brain AVM patients are different from healthy controls, and are markedly different from ruptured brain AVM patients. Genes that were different between the groups were overrepresented in several functional pathways of interest, including inflammatory and growth factor-related signaling pathways.
This first study of gene expression profiling in the blood of brain AVM patients indicates this approach may aid in the discovery of markers to detect individuals at risk for hemorrhage, and provide clues as to the key players in brain AVM. By identifying markers that could signal high risk of having a stroke in the future, we will be better be able to recommend treatment to those who need it the most urgently, or conversely, more rationally defer treatment when appropriate.
