Identification of mutations that prevent the development of Alzheimer’s disease

user-5ebe28ba4c775eda72abcdf3(2019)

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摘要
Most genetic studies of Alzheimer's disease compare patient DNA to controls to identify mutations that increase disease risk. That approach has identified some risk variants, but none have led to effective treatments, and most of the genetic contributors are still unknown … Now, a team of researchers is tackling the problem from the opposite side, asking why some high-risk elderly people don't have Alzheimer's – a strategy that has discovered a protective mutation in a gene that may be a good drug target … To find protective mutations for Alzheimer's, the scientists first searched the Utah Population Database for families with above-average rates of Alzheimer's that also had at least four people who were resilient to the disease -- that is, they were cognitively normal, despite being 75 years old or older, and having the APOE e4 allele, which increases risk more than 5-fold per copy … The Utah Population Database is a unique dataset …
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