On the Alzheimer's Front, 'New Avenues' Have Opened

Research suggests rare gene mutation helps delay onset of disease's symptoms in some individuals
By Jenn Gidman,  Newser Staff
Posted Jun 20, 2024 7:47 AM CDT
On the Alzheimer's Front, 'New Avenues' Have Opened
Stock photo.   (Getty Images/PIKSEL)

Researchers have hit upon a genetic quirk that seems to delay onset of the symptoms of Alzheimer's disease—sometimes for years, or even decades. "It opens new avenues," says neuropsychologist Yakeel Quiroz of Massachusetts General Hospital, a lead author of the new study published Wednesday in the New England Journal of Medicine, per the AP. "There are definitely opportunities to copy or mimic the effects."

  • Colombia connection: Hints of this "genetic oddity" emerged as scientists were studying an enormous family in the South American country a few years back. Members of that family were plagued with a mutation that leads to an aggressive form of Alzheimer's that sets off the disease at a particularly young age—save for one woman who seemed to escape symptoms of the brain disorder long after others developed theirs. Turns out she carried two copies of a rare version of the APOE gene, dubbed the Christchurch variant, that helped stave off symptoms until she was in her 70s (instead of seeing them in her mid-40s, like other family members).

  • One copy? The researchers wondered if a single copy of the Christchurch variant would still offer such protections, and so they tested 1,000 members of that extended Colombian family and found more than two dozen others who carried the so-called Paisa mutation, but just one copy of the Christchurch gene variant, per USA Today. The Washington Post notes that of those 27 in total, not all of them developed cognitive impairment, and those who did saw symptoms arrive at age 52, about five years later than those without any copies of the Christchurch variant.
  • Possible cause: Previous research has suggested that the Christchurch variant may stymie production of tau, a protein that kills brain cells, in the years before symptoms pop up. Studies have tended to concentrate more on the buildup of plaques from another protein, beta-amyloid.
  • Treatment: The discovery is good news for scientists trying to work on therapies for Alzheimer's, as trying to create meds that ape the effects of having two copies of the variant would likely prove more challenging. The new research "suggests even partly mimicking the Christchurch gene's action could work," per the Post.
  • Next up: Researchers involved in the study are now trying to come up with antibody drugs that might help fend off Alzheimer's symptoms. Study co-author Dr. Joseph Arboleda-Velasquez tells USA Today he hopes to start testing meds in human clinical trials by 2026.
(More Alzheimer's disease stories.)

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