Rare, Genetic Form of Dementia Described

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Jmac
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Rare, Genetic Form of Dementia Described

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Thought this was very interesting...not just because of the new discovery, but because of the potential implications for AD:

“What we found in this study is a pattern we’ve never seen before, together with a mutation that’s never been described before,” Lee said. “Given that this mutation inhibits VCP activity, that suggests the converse might be true—that if you’re able to boost VCP activity, that could help break up the protein aggregates. And if that’s true, we may be able to break up tau aggregates not only for this extremely rare disease, but for Alzheimer’s disease and other diseases associated with tau protein aggregation.”

The story I read: https://www.genengnews.com/news/rare-ge ... described/

The original study: https://science.sciencemag.org/content/ ... ce.aay8826
Autosomal dominant VCP hypomorph mutation impairs disaggregation of PHF-tau
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