A Mutation Protection for Alzheimer's

For years scientists have been working with a large multi-generational Columbian family to help understand Alzheimer's Disease.

They have a mutation called paisa that causes many in the six thousand member clan to develop dementia in their forties or even younger. But among them, one got a mild case of dementia at the later age of sixty-seven. When he died at seventy-four from pneumonia, the family donated his brain for study.

Brain scans showed high levels of the sticky protein called beta-amyloid as well as a proten called tau. Both are thought to damage and kill neurons that lead to Alzheimer's.

But the area of his brain important in memory had low levels of the protein tau. So, his brain mirrored someone with severe dementia and yet his disease progressed more slowly.

Then researchers found another mutation in a gene called Reelin which is linked to neurological diseases such as schizophrenia and autism spectrum disorder. Reelin encodes a protein important for brain cell function and had never been linked to dementia before.

Mice with the same Reelin mutation these mice differences in tau modification that prevented its accumulation around neurons just like in the man's brain.

Because the man was more resistant to Alzheimer's despite the accumulation of beta-amyloid plaques, these plaques may not play the role we thought.

Given the terrible toll of this disease and that far more people will develop it in the future finding treatments that work is crucial.

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