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Scientists discover a new risk factor for Alzheimer's

dent sets of observations, all implicating the SORL1 gene in Alzheimer's disease," said St George-Hyslop. "We started with an observation from pathologists, showing reduced SORL1 protein levels in the brains of patients with Alzheimer's. Then we have the observation by us and other groups that if you reduce SORL1 expression--in either cell cultures or mice--you get an increase in the production of amyloid-beta. Now we can add our new observation that variants of the SORL1 gene are associated with an increased risk of Alzheimer's."

St George Hyslop said that other researchers need to replicate the results in other groups. "Even though we've seen it in six different groups of people, seeing it in eight, nine, or ten is even better," he explained. Three of the nine data sets that St George-Hyslop's team studied did not reveal a significant association between SORL1 and Alzheimer's. Non-SORL1 causes might have been overrepresented and SORL1-associated causes underrepresented in these data sets, St George-Hyslop explained. Alternatively, these data sets may have contained several different Alzheimer's variants of SORL1, but each variant might have been associated with a different SNP pattern. That complexity would have obscured the SNP marker patterns that the researchers were tracking.

The importance of this work is that it identifies a new player among the mechanisms causing Alzheimer's disease, St George-Hyslop said. "This will lead to the real endgame, which is to see how to exploit the findings as a new diagnostic or therapeutic target," he said.


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Source:Howard Hughes Medical Institute


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