Gene Mutation Defends Against Alzheimer’s Disease

Gene Mutation Defends Against Alzheimer’s Disease

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Almost 30 million people live with Alzheimer’s disease worldwide, a staggering health-care burden that is expected to quadruple by 2050. Yet doctors can offer no effective treatment, and scientists have not been able definitively to pin down the underlying mechanism of the disease.

Recently published research offers some hope on both counts, by showing that a lucky few people carry a genetic mutation that naturally prevents them from developing the condition. The discovery not only confirms the principal suspect that is responsible for Alzheimer’s, it also suggests that the disease could be an extreme form of the cognitive decline seen in many older people. The mutation — the first ever found to protect against the disease — lies in a gene that produces amyloid-β precursor protein (APP), which has an unknown role in the brain and has long been suspected to be at the heart of Alzheimer’s.