Rare genetic mutation delayed Alzheimer's in Colombian man

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Rare genetic mutation delayed Alzheimer's in Colombian man
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The discovery could change our understanding of what causes the disease and how to treat it.

ipopba/iStockHowever, Lopera and his team also found an individual in the family, a man, who did not develop cognitive decline till the age of 67.

After analyzing genomes of 1,200 Colombians with paisa mutation, the researchers found that the man had a second genetic mutation, in the gene that codes for the protein Reelin. The protein is known to have a role in the development of schizophrenia and autism, but not in Alzheimer's thus far. Interestingly, the man's sister also has the same two sets of mutations but developed severe dementia by the age of 64. The researchers suggest that head injuries and other disorders could have likely contributed to her developing cognitive decline earlier.

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