Findings

Science  13 Jul 2012:
Vol. 337, Issue 6091, pp. 140
  1. Gene Mutation Protects Against Alzheimer's

    Scientists have identified a rare gene mutation that appears to protect against Alzheimer's disease. In people 85 or older, the mutation is 7.5 times more common in those who don't develop the memory-robbing dementia, a team led by Kári Stefánsson at deCODE genetics in Reykjavik reports this week in Nature.

    The mutation affects a gene called APP, which encodes a protein that breaks down into pieces, including the amyloid β peptide that forms the hallmark plaques in the brains of Alzheimer's patients. Previously, researchers identified mutations to APP that increase amyloid beta formation, causing an early-onset, inherited form of Alzheimer's disease. The new mutation found by Steffánson's group appears to reduce amyloid formation.

    The work bolsters the case that early- and late-onset Alzheimer's involve the same mechanisms, says Gerard Schellenberg, a molecular geneticist at the University of Pennsylvania. Clinical trials scheduled to begin later this year will give anti-amyloid drugs to people who are genetically predisposed to early-onset Alzheimer's disease, and Schellenberg says, “This study makes it seem more likely that if they find something [that prevents early-onset Alzheimer's], there's a good chance it will also work for late-onset disease.” http://scim.ag/Alzmuts

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