Rare Genetic Mutation Might Hold Clues to Preventing Alzheimer's

A case study in Nature Medicine of a woman with a genetic mutation that kept her from developing dementia for decades, despite already-existing brain damage from Alzheimer's, may suggest a possible way to prevent the disease, reports CBS News . She and about 1,200 other women in Colombia carry the E280A mutation of the Presenilin 1 (PSEN1) gene, which is known to increase the odds of developing Alzheimer's at a far younger age than usual. The subject in question was predisposed to develop Alzheimer's in her 40s, yet she had fewer neural tangles in her brain than is typical for persons with Alzheimer's. By the time she reached her fourth decade, she had the same abnormally high level of brain amyloid-beta deposits as others with the PSEN1 mutation. Genetic analysis uncovered the presence of two copies of the "Christchurch" mutation in the APOE3 gene. This appeared to protect the subject against Alzheimer's, preserving memory and clear thinking. Harvard Medical School Professor Joseph Arboleda-Velasquez suggested Alzheimer's-related dementia could be prevented if "new drugs that mimic the effect of the mutation" can be synthesized.