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How a Rare Genetic Mutation Spared This Woman's Mind From Alzheimer's

Researchers investigated the case of a Colombian woman whose rare APOE genetic mutation helped protect her against Alzheimer's disease.

ByAlex Orlando
The town of Yarumal, Colombia. Some people from the town carry a rare mutation that makes them highly susceptible to early-onset Alzheimer's. (Credit: Oscar Garces/Shutterstock)

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Her indicated that she would almost certainly get . But one woman escaped that fate. She lived into her 70s before experiencing any issues with thinking skills, and even then avoided the worst of the condition.

Could this woman’s rare genetic mutation shift our understanding of Alzheimer’s disease?

That’s the theory from scientists who studied the case of a Colombian woman with a unique quirk of DNA that kept dementia at bay for decades. She was seemingly protected from the effects of Alzheimer's, though her brain had already developed a key characteristic of the disease. In a study published earlier this month in the journal Nature Medicine, the researchers note that the findings could shed light on new ways of treating — and possibly preventing — the degenerative brain disease.

For most people, the causes of Alzheimer’s are largely unknown — and not dictated by genetic predisposition. But the woman, ...

  • Alex Orlando

    Alex is a senior associate editor at Discover. Before he joined the Discover team in 2019, he worked as a reporter for the Half Moon Bay Review and as a staff writer for Houston’s Texas Medical Center. His work has also appeared in The Verge and San Francisco Magazine. Alex holds a master's degree in journalism from UC Berkeley.

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