AANS Neurosurgeon | Volume 26, Number 3, 2017

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More Support for Amyloid Hypothesis in Alzheimer's: Protective APP Mutation Lowers AB in Blood

A few lucky folks, mostly in Iceland and Scandinavia, carry a mutation that protects them from ever developing Alzheimer’s disease. Discovered five years ago, the mutation reduces the ability of neurons to make toxic amyloid beta (A?) peptides, the main ingredient of senile plaques that accumulate in the brain of Alzheimer’s patients. But so far no one had proven that A? was actually diminished in people with the mutation. Now, Finnish researchers report for the first time that men carrying the protective gene (called APP A673T) have about one-third less A? in their blood than those without the gene. This likely explains why they do not get AD, and raises hopes that, for the vast majority of people without the mutation, drugs now under development that interfere with A? synthesis could offer a path to prevention of Alzheimer’s.

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