Evading Alzheimer’s Despite Genetic Risk

A family with a history of early-onset Alzheimer’s disease has provided researchers at Washington University School of Medicine in St. Louis with valuable insights. One family member, despite inheriting the genetic mutation causing early dementia, remained cognitively healthy into her 70s. The researchers identified a rare variant of the APOE gene, known as the Christchurch mutation, which she carried in two copies. Using genetically modified mice, they demonstrated that this mutation severs the link between early and late phases of Alzheimer’s disease. Specifically, it prevents the progression from amyloid beta buildup to tau accumulation, suggesting a potential approach for preventing Alzheimer’s dementia. The study emphasizes the importance of microglia activity in mitigating tau pathology and provides new avenues for research into Alzheimer’s prevention.

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