A person who, based on his family background, thinks it is fate that he develops memory loss in his 40s or 50s, and has lived a normal life for decades. It appears to be preserved by a gene change that increases the function of a protein that helps nerve cells communicate. Scientists think that understanding how this gene change affects the brain could help prevent Alzheimer’s in other people.
Mutated gene may help prevent disease
This human is a member of a large family with many individuals who have inherited a mutated gene called Presenilin-1 or PSEN1. PSEN1 carriers are almost certain to develop Alzheimer’s disease at a relatively young age. However, this person with the PSEN1 mutation was diagnosed with mild dementia at the age of 72. He subsequently suffered further amnesia and infections and passed away at the age of 74.
But there was something advantageous for him; Genetic analysis revealed that this person had a rare change in the gene that codes for a protein called Reelin, which helps nerve cells communicate. “This gives us great insight and makes it very clear that putting more reelin in the brain can really help patients,” the scientists said.