NicoleCRust,
@NicoleCRust@neuromatch.social avatar

Many know about amyloid, the gene APP and its relationship to Alzheimer's. But how many know the backstory? It all began with a letter from Carol Jennings to John Hardy .... Wonderful tribute and retelling here in @thetransmitter.

Much gratitude, Carol Jennings. RIP.

https://www.thetransmitter.org/alzheimers-disease/carol-jennings-whose-familys-genetics-informed-amyloid-cascade-hypothesis-dies-at-70/

barrygoldman1,
@barrygoldman1@sauropods.win avatar

@NicoleCRust @thetransmitter i don't know. everytime i hear it it sounds like hype. what's the latest science on this?

NicoleCRust,
@NicoleCRust@neuromatch.social avatar

@barrygoldman1 @thetransmitter

Carol's family is among those with a type of rare genetic mutation that, if inherited, determines that an individual will develop Alzheimer's with near certainty. This is only true for ~1% of all individuals with Alzheimer's (more here: https://dian.wustl.edu/). For this group, there is very little question about the science. But tragically, we still don't have a cure for them.

But what I expect you are hinting at is also true: for the 99% of other individuals with Alzheimer's, what triggers it, and the role that amyloid plays in that, is a lot less clear. In some of those individuals, genetics leads to higher risk. For others, no genetic links have been found.

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