How was the connection between Down's Syndrome and Alzehimer's Disease made?

Researchers have known for a long time that Alzheimer's disease and Down syndrome are linked. In this video, HealthMaker William Mobley, MD, PhD, describes the finding that solidified the connection and how it will impact future research.

Transcript

00:00

WILLIAM MOBLEY: By removing just one copy of one gene, the extra copy of APP, there was no more degeneration of these neurons.

00:08

[MUSIC PLAYING]

00:18

First of all, I didn't discover the link between Down syndrome and Alzheimer's disease. That was way before my time.

00:25

Wonderful physicians working at UCSF, and other places, and in New York had discovered that many, many years ago.

00:32

Nathan Malamud and any number of other doctors were involved in finding that link. So that wasn't me. I think the aha moment for me was

00:41

when we were doing studies in a mouse model of Down syndrome and showed that by removing just one copy of one gene, the extra copy of APP,

00:52

that there was no more degeneration or these neurons that are known to die in Alzheimer's disease and Down syndrome.

00:58

That was it for me. I mean, I guess others would have said, of course that was the answer. But I thought, no, with all these different genes,

01:04

it can't be as simple as APP. And it's not. It's not just one gene. But it made a huge difference-- enough of a difference

01:12

that I said, now we've got to go after this. Now we've got to do our best to understand how this happens

01:18

to help people with Down syndrome, hopefully to prevent the Alzheimer's disease that occurs in Down syndrome, and maybe, by doing so,

01:25

will help the rest of us. [AUDIO LOGO]