Genetic variants of the NOTCH3 gene in the elderly and magnetic resonance imaging correlates of age-related cerebral small vessel disease.

Summary: As we age, it is common for small "white matter lesions" to appear on brain scans. These spots are linked to memory issues and a higher risk of stroke. Scientists have long known that mutations in a specific gene called NOTCH3 cause a rare, severe hereditary stroke disorder. In this study, researchers investigated whether common variations of this same gene might play a role in the brain health of the general elderly population.

By analyzing the DNA and brain scans of over 5,000 people, they discovered that NOTCH3 is highly variable. Crucially, they found that specific common genetic variants significantly increase the risk of these brain lesions—but only in people who also have high blood pressure. This suggests that for many older adults, genetic makeup and hypertension work together to accelerate signs of brain aging.