A University of Alberta study reportedly pinpoints two genes (FOXC1 and PITX2) that cause cerebral small vessel disease, a “pre-stroke” condition that increases the risk for future stroke up to ten times. A news release from the University of Alberta Faculty of Medicine & Dentistry states that the researchers found that the mutations result in cerebral small vessel disease in patients as young as one year of age. The researchers inhibited these genes in lab models, inducing comparable brain vascular changes and gained key insights into the mechanisms involved.

The release also notes that the two genes are known to cause a type of pediatric glaucoma by impacting the normal migration of vital stem cells to the eye. These same stem cells play a key role in the formation of brain blood vessels, forming the smooth muscles in artery walls that are essential for structural integrity. A reduction in the number of these cells, the release says, impairs vascular stability, and leads to cerebral small vessel disease. This leads to the substantial increased long-term risk of stroke.

The research reportedly demonstrated that a proportion of stroke has a developmental basis, highlighting a wide timeframe of five decades or more between the onset of cerebral small vessel disease and a stroke occurring. The discovery also paves the way for therapeutic intervention and research intended to develop treatments targeting potential solutions.

Additionally, the study’s findings may also offer insights into eye disease, where the research originated.

Source(s): Science Daily, University of Alberta Faculty of Medicine & Dentistry