This Mutation Protects Mice From Alzheimer's Disease; Could It Work on Humans?

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This finding may open up new ways to protect against Alzheimer's disease. An elderly man holds a photo to stimulate memory. David Ramos/Getty Images

Scientists created lab mice with a mutation that gave them protection from Alzheimer's disease. The mutation reduced their buildup of amyloid-beta, a molecule that can accumulate and cause brain plaque. Although the research is new, there is reason to believe the same mutation protection also exists in humans.

In a new study, published May 4 in Nature Communications, researchers from the RIKEN Center for Brain Science in Japan used a gene editing tool called CRISPR technology to create mice that had a mutated version of an App gene, a gene associated with the buildup of amyloid-beta in the brain. Doctors have observed that amyloid-beta builds up in the brains of Alzheimer's Disease patients and can interfere with brain cell communication. The hope is that a mutated version of the gene would reduce this amyloid-beta plaque formation, a press release reported.

These mice were specifically designed to have a rodent version of Alzheimer's disease and were examined at six months of age. Both female and male mice were used, as well as mice that had the genetic mutation and those that did not.

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This finding may open up new ways to protect against Alzheimer's disease. An elderly man holds a photo to stimulate memory. David Ramos/Getty Images

Results revealed that animals with this mutation were protected from Alzheimer's disease and exhibited reduced accumulation of amyloid-beta. Mice had various reductions in the desired gene deletion, but mice with the most complete deletions also exhibited the most drastic plaque reduction.

A review of genome sequence data from 1,795 Icelanders revealed a similar mutation also appeared to protect humans from Alzheimer's disease, although the exact reason why is still unknown. These results could not be reproduced in further studies, but this is likely due to the mutation's rarity. For this reason, the research suggested that animal studies on the gene may be a better means to understand what the mutation really does.

The research suggests gene editing may be a valuable avenue for Alzheimer's disease research, as well as other incurable diseases.

The report used the deletion mutation of CCR5 as an example of the potential of genetic editing in disease treatment. Past research showed that many people who are resistant to HIV have a mutation in their CCR5 gene. This mutation means many forms of the virus cannot infect cells. Naturally, this mutation occurs in about one percent of Caucasian people, but the mutation makes them virtually immune to the virus. The ability to reproduce this mutation, perhaps through genetic editing, could pass this immunity to others.

This Mutation Protects Mice From Alzheimer's Disease; Could It Work on Humans? | Tech & Science