How One Man's Rare Alzheimer’s Mutation Delayed The Onset Of Disease

(Posted on Friday, May 26, 2023)

Neurologists have discovered a genetic mutation that may protect the brain from dementia.

Francisco Lopera, a researcher at the University of Antioquia in Colombia, has spent almost forty years studying a family of individuals with a rare form of early-onset Alzheimer’s disease that causes them to develop symptoms of dementia in their forties. The early form of Alzheimer’s disease is thought to be caused by the Paisa genetic mutation and is found in many of the 6,000 family members.

Now, Lopera has identified one family member who contains a second unique genetic mutation that has somehow protected him from dementia until the age of 67. Interestingly, despite his cognitive abilities, the patient carries the paisa mutation and displays other Alzheimer’s disease biomarkers like amyloid plaques.

This study not only challenges the theory that amyloid plaques are the primary cause of Alzheimer’s disease symptoms, but points to a potential avenue of treatment for Alzheimer’s disease. The question that remains is: what is this genetic mutation and how does it protect the brain from dementia?

Read the full article on Forbes.