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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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More Information
How one man's rare Alzheimer's mutation delayed the onset of disease
Genetic resilience found in a person predisposed to early-onset dementia could potentially lead to new treatments...
Resilience to autosomal dominant Alzheimer's disease in a Reelin-COLBOS heterozygous man
We characterized the world's second case with ascertained extreme resilience to autosomal dominant Alzheimer's disease (ADAD). Side-by-side comparisons of this male case and the previously reported female case with ADAD homozygote for the APOE3 Christchurch (APOECh) variant allowed us to discern common features...
Reelin and Neuropsychiatric Disorders
Proper neuronal migration and laminar formation during corticogenesis is essential for normal brain function. Disruption of these developmental processes is thought to be involved in the pathogenesis of some neuropsychiatric conditions...
