Gene Mutation Found that Protects Against Alzheimer’s, with Drug Discovery Implications

Posted: Jul. 12, 2012

Genes are the specific DNA blueprints for life, and all genes play roles that are essential for health. But some can carry DNA variants that influence risk for disease, either by increasing or decreasing susceptibility. If a variation in a gene is very rare, it’s called a mutation. The mutation may cause disease, increase risk for a disease, protect against a disease, or have no impact on health at all.

On Wednesday, July 11, scientists announced a finding, published in the journal Nature, that a single gene that causes the rare, early-onset form of Alzheimer’s disease also can carry a mutation that serves to protect against the disease. This mutation blocks the buildup of excess beta amyloid, and shows that beta amyloid is “the prime therapeutic target” says Rudy Tanzi, chairman of the Cure Alzheimer’s Fund Research Consortium. Cure Alzheimer’s-funded researcher Sam Gandy called the finding “extraordinarily important, the most significant in the field since researchers first reported a mutation that leads to the disease 22 years ago.” These findings support drug development to modulate the amount of beta amyloid in the brain as a preventative for Alzheimer’s disease. 

Learn about this finding from the following sources: