Columbia researchers have made a groundbreaking discovery in the fight against Alzheimer’s disease. They have identified a genetic variant that reduces the odds of developing Alzheimer’s disease by up to 70%. This protective variant is linked to the fibronectin gene, which produces a component of the blood-brain barrier.
The discovery of this protective variant supports the emerging evidence that the brain’s blood vessels play a significant role in Alzheimer’s disease. The researchers found that the protective variant prevents the buildup of excess fibronectin at the blood-brain barrier, which could be preventing the clearance of amyloid deposits from the brain.
The researchers discovered the protective variant in people who never developed symptoms but carried the e4 form of the APOE gene, which significantly increases the risk of developing Alzheimer’s disease. They hypothesized that these resilient people may have genetic variants that protect them from APOEe4.
To find protective mutations, the Columbia researchers sequenced the genomes of several hundred APOEe4 carriers over age 70 of various ethnic backgrounds, including those with and without Alzheimer’s disease. They identified the fibronectin variant and published their results in a preprint for other researchers to view.
Another group from Stanford and Washington universities replicated the study in an independent cohort of APOEe4 carriers, mostly of European origin. They found the same fibronectin variant, confirming the finding and giving the researchers even more confidence in their result.