Man Identified With Rare Mutation That Protects From Alzheimer's Disease

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Man Identified With Rare Mutation That Protects From Alzheimer's Disease
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To many, a family history of Alzheimer's disease would feel like a heavy, ominous cloud hanging overhead.

"It's just such an important new avenue to pursue new therapies for Alzheimer's disease,"The hope is that by studying how reelin interacts with Alzheimer's proteins and protects neurons in their clutches, researchers could potentially find a way to boost resilience across all forms of Alzheimer's disease, and not just in those who inherit its protective variant.for nearly 40 years that we are learning so much about Alzheimer's disease.

In the latest study, Lopera, at the University of Antioquia in Medellín, Colombia, and colleagues analyzed clinical and genetic data from about 1,200 individuals of that Colombian kindred. They identified the new and extremely rare variant in the man who remained cognitively intact, as well as his sister, who was less protected than her brother and died years earlier.

In 2019, Lopera and his colleagues reported another case of a woman carrying the Paisa mutation who showed no signs of cognitive decline until her 70s – some 30-odd years later than expected for carriers of the mutation. Studies showed she too had unusually low levels of tau throughout her brain, but her resilience to Alzheimer's was attributed to a different mutation in another gene: APOE.

In time, if treatments to tap into the reelin signaling pathway could be developed, they"may have a profound therapeutic impact on the resistance to tau pathology and neurodegeneration, and resilience against cognitive decline and dementia in Alzheimer's disease," the researchers

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