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Researchers from the Université Laval Faculty of Medicine and CHU de Québec–Université Laval Research Center have successfully edited the genome of human cells grown in vitro to introduce a mutation providing protection against Alzheimer’s disease. The details of this breakthrough were recently published in The CRISPR Journal.

“Some genetic mutations increase the risk of developing Alzheimer’s disease, but there is a mutation that reduces this risk,” says lead author Professor Jacques-P. Tremblay. “This is a rare mutation identified in 2012 in the Icelandic population. The mutation has no known disadvantage for those who carry it and reduces the risk of developing Alzheimer’s disease. Using an improved version of the CRISPR gene editing tool, we have been able to edit the genome of human cells to insert this mutation.”

The brains of those with Alzheimer’s present amyloid plaques, which have a level of toxicity believed to cause neuron death. These plaques are formed when the amyloid precursor protein is cleaved by an enzyme called beta-secretase. “The Icelandic mutation makes it harder for this enzyme to cleave the amyloid precursor protein. As a result, the formation of amyloid plaques is reduced,” explains Professor Tremblay.