Alzheimer's Study 'Made the Hair on My Arms Stand Up'

Man's genetic mutation staved off onset for decades, suggesting a future treatment
By John Johnson,  Newser Staff
Posted May 15, 2023 12:37 PM CDT
Updated May 20, 2023 12:15 PM CDT
Man's Brain Mutation Suggests a Way to Treat Alzheimer's
Stock image of brain scans.   (Getty / Nomadsoul1)

In one sense, the study subject's case is grim: He began showing signs of cognitive impairment at 67, developed full-blown dementia at 72, and died two years later, per STAT News. In another sense, his case is remarkable: He should have developed Alzheimer's in his early 40s because of a gene mutation that all but guaranteed it, reports the New York Times. However, the onset was delayed for two decades because of a second gene mutation, one that points the way toward potential treatment, say researchers in a study at Nature Medicine. If scientists could somehow replicate what happened in the man's brain, they might be able develop a drug to do the same for others.

"Reading that paper made the hair on my arms stand up," neuroscientist Catherine Kaczorowski of the University of Michigan in Ann Arbor tells Nature. "It’s just such an important new avenue to pursue new therapies for Alzheimer’s disease." The Colombian man in the study belongs to a family with a genetic mutation that causes Alzheimer's in middle age. However, his second mutation appeared to stop the disease from taking root in an area of the brain known as the entorhinal cortex, which is believed to play a crucial role in the development Alzheimer's, explains the Times.

The man is actually the second member of his extended family who seems to have been protected by a genetic mutation. In 2019, researchers identified a woman who similarly didn't develop Alzheimer's until decades later than expected. However, she had a different genetic mutation, suggesting "there are multiple pathways that appear to stave off cognitive decline," per STAT News. The bottom line here: "It seems that it is possible to have decades-long protection against Alzheimer’s disease," says cell biologist Joseph Arboleda-Velasquez, one of the study authors. (More Alzheimer's disease stories.)

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