Alzheimer's: Two additional gene mutations linked to disease

Gene is only second linked to late-onset Alzheimer's, fifth overall linked to the disease.
By DANIELLE HAYNES,  |  Sept. 28, 2013 at 8:20 PM
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Researchers at Massachusetts General Hospital identified two gene mutations that can increase a person's chance of developing late-onset Alzheimer's disease.

The research, published in the October issue of Neuron magazine, found that the two rare mutations are found in the ADAM10 gene, the second gene found to play a role in Alzheimer's developed after the age of 60. It's the fifth gene overall linked to the disease.

"This is the first report to document, in animal models, new [disease-causing] gene mutations for Alzheimer's since the reports of the original four genes in the 1990s," study senior author Rudolph Tanzi, director of the genetics and aging unit at the MassGeneral Institute for Neurodegenerative Disease, said in a hospital news release.
The mutations increased production of beta-amyloid protein in mice, the same substance found in the brains of people with Alzheimer's. The mutations also reduce the amount of new nerve cells created in the hippocampus, which is a part of the brain essential to learning and memory.

"What we found regarding the many effects of these two rare mutations in ADAM10 strongly suggests that diminished activity of this enzyme can cause [Alzheimer's disease], and these findings support ADAM10 as a promising therapeutic target for both treatment and prevention," Tanzi said.

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