APOE Mutation Linked to Protection From Alzheimer’s: Case Study

A woman whose DNA suggested she’d develop early-onset dementia staved off cognitive decline for decades.

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Researchers have identified a genetic mutation that may help mitigate the risk of some forms of Alzheimer’s.

In a study published yesterday (November 4) in Nature Medicine, scientists describe the case of a woman from Medellín, Colombia, who lived into her 70s before developing a mild form of dementia, despite being a carrier for a genetic variant associated with early-onset Alzheimer’s.

One possible reason that the woman staved off dementia for so long, the team suggests in the paper, is that she also possesses another mutation, this time in the APOE gene, that could have had a protective effect.

“I’m very excited to see this new study come out—the impact is dramatic,” Yadong Huang, a neurologist at the Gladstone Institutes who was not involved in the research but coauthored an accompanying commentary article, tells The New York Times. “For both research and therapeutic development, this new ...

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