UF Researchers Identify New Genetic Mutation Linked to Alzheimer’s Risk

The root causes of most forms of Alzheimer’s disease largely remain a mystery. Now, researchers have revealed a new piece of the puzzle.

Neurogeneticists at the University of Florida led by Lien Nguyen, Ph.D., and Laura Ranum, Ph.D., have discovered a novel genetic mutation and associated buildup of toxic proteins in the brain — a type of buildup distinct from amyloid or tau, proteins that have long been the focus of Alzheimer’s research.

Unexpectedly, the investigators found that 45 of 80 autopsy brains of Alzheimer’s patients showed the accumulation of toxic proteins containing long chains of the amino acids glycine and arginine (polyGR). The findings were reported in the journal Proceedings of the National Academy of Sciences.

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