A gene has been discovered that reduces the risk of developing Alzheimer’s disease by up to 70%. Published in the journal Acta Neuropathologica, it is the result of a study conducted at Columbia University involving a total of 11 thousand people. The protective variant identified by the study is found in a gene that produces fibronectin, a component of the blood-brain barrier, a membrane that surrounds the brain’s blood vessels and controls the movement of substances in and out of the brain.
The discovery of the protective variant, which therefore seems linked to the better ability to cleanse the brain of toxins across the blood-brain barrier, supports growing evidence that blood vessels in the brain play an important role in Alzheimer’s disease and could open a new direction in therapeutic development.
“We may be able to develop new types of therapies that mimic the protective effect of the gene to prevent or treat the disease,” says Caghan Kizil, co-leader of the study that identified the variant.
Fibronectin is usually present in the blood-brain barrier in very limited quantities, but is increased in large quantities in people with Alzheimer’s. The variant identified in the fibronectin gene appears to protect against the disease by preventing excessive accumulation of fibronectin at the blood-brain barrier.
The researchers confirmed this hypothesis in a zebrafish model of Alzheimer’s and have other studies underway in mice. They also found that reducing fibronectin in the animals increased the removal of amyloid, improving the disease.
“These findings gave us the idea that a therapy targeting fibronectin and mimicking the protective variant could provide a strong defense against the disease in people,” says study co-leader Richard Mayeux.
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