Gene variant shows promise slowing Alzheimer's

What happened

A single copy of a rare genetic variant tied to Alzheimer's disease appears to delay the onset of cognitive impairment and dementia by about five years, U.S. and Colombian researchers reported Wednesday. The study, published in the New England Journal of Medicine, offers hope that a drug emulating this variant of the APOE3 gene, dubbed the Christchurch variant, could similarly defeat or delay Alzheimer's.

Who said what

Researchers reported in 2019 that a Colombian woman from an extended family genetically predisposed to develop Alzheimer's in their 40s had fended off dementia until her 70s, seemingly because she carried two copies of the Christchurch variant. The new study found that 27 relatives with just one Christchurch gene developed symptoms around age 52, roughly five years later later than other family members with the early-onset genetic mutation.

One patient could be a fluke, but "finding 27 people" evidently shielded by the Christchurch variant "increases our confidence in the discovery — and shows the results are reproducible," the study's co-author Joseph Arboleda-Velasquez, at Mass Eye and Ear in Boston, said to The Washington Post. 

What next?

Researchers have found success testing an experimental drug that imitates Christchurch in mice and are seeking authorization for human trials.

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