Video / HealthMakers / William Mobley, MD, PhD / Why Does an Extra Copy of One Gene in Down Syndrome Patients Have Such a Profound Effect?

Why Does an Extra Copy of One Gene in Down Syndrome Patients Have Such a Profound Effect?

Why Does an Extra Copy of One Gene in Down Syndrome Patients Have Such a Profound Effect? (0:33)

A lot of work is being done to figure out exactly why an extra copy of one gene has such a profound effect on Down syndrome patients. HealthMaker William Mobley, MD, PhD, explains the current thinking on the topic in this video.

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I think we are pretty far along, so we know that an extra copy of APP and Down Syndrome is a big problem. The question is, what is it about, that extra copy of APP, and we think we know now that there are several processing products of APP, smaller fragments of APP, that causes us to get sick and possibly get sick in a way that disrupts the way that information moves from the ends of axons, which are these long projections from neurons to the cell body and back again.

We think that's part of the story, maybe even a very important part of the story.