Unusual mechanism in rare mutation associated with Alzheimer’s uncovered

Alzheimer's disease
PET scan of a human brain with Alzheimer’s disease. Credit: public domain

A novel mechanism has been identified that might explain why a rare mutation is associated with familial Alzheimer’s disease in a new study by investigators at the University of Chicago. The paper, published on April 2 in the Journal of Experimental Medicine, characterizes a mutation located in a genetic region that was not previously thought be pathogenic, upending assumptions about what kinds of mutations can be associated with Alzheimer’s Disease.

Alzheimer’s, a neurodegenerative disease that currently affects more than 6 million Americans, has been characterized by the accumulation of…

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