American genetic study identifies important stroke risk factor

StrokeA major area of medical exploration is neurologic disease. This is particularly the case with stroke, as scientists look to identify and understand the genetic basis of diseases that increase risk.

Cerebral small vessel disease (SVD) is a little-known disease that affects most elderly persons to a varying degree. It is a term that describes a plethora of abnormalities that manifest themselves within the small blood vessels of the brain.

Although not known by the general public, it is a common phenomenon in an ageing brain, and a leading cause of vascular dementia as well as ischemic strokes.

A recent study has looked at the link between the onset of SVD and cysteine altering variants in the NOTCH3 gene. This gene variant is found in 1 in 300 people, and often leads to a hereditary condition that is believed to contribute to SVD and stroke.

Studying the prevalence of “white matter lesions” which are synonymous with SVD in older patients, researchers found that individuals with a NOTCH3 genetic variant are more likely to develop SVD in old age. This increases their chance of suffering a stroke as they age.

This is an important link, as it will guide medical experts in tailoring future treatments to prevent stroke in those who carry the genetic variant.

Explore the detailed findings at