Study Finds One Copy of Protective Genetic Variant Helps Stave Off Early-Onset Alzheimer’s Disease

In an extended family with an inherited form of early-onset Alzheimer’s disease, 27 family members who carried one copy of the APOE3 Christchurch genetic variant had a five-year delayed disease onset compared to those who did not have the variant.

Dr. Quiroz during a home visit in rural Antioquia to a family from the Colombian kindred with autosomal dominant AD. From left to right: Dr. Quiroz, Maria Lucila and Gloria (research participants).

Key Takeaways

  • An international team, including researchers from Mass General Brigham, has been searching for protective genetic variants in a family that includes more than 1,000 individuals who are genetically predisposed to develop early-onset Alzheimer’s disease in their 40s.
  • Previously, the researchers identified the “Christchurch variant” as potentially protective against Alzheimer’s based on one family member who had two copies of this variant and was expected to develop dementia in her 40s, but only developed cognitive impairment 30 years after the expected age.
  • The new study finds that having just one copy of the APOE3 Christchurch variant is enough to confer a degree of protection, adding new evidence that the research could be pointing to a new therapeutic target.
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