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Wednesday, March 27, 2013

Molecular Roots of Down Syndrome Unraveled

Researchers have discovered the cause of impaired learning and memory in individuals with Down syndrome. A protein called SNX27 is at the root of the decreased cognitive function. A person with an extra 21st chromosome produces less of the SNX27 protein which disrupts brain function.

It sounds so fascinating that they have been able to pinpoint the why and where of cognitive deficits -explicitly to this protein.

Further research has shown when this protein was restored in mice they showed improved cognitive function and behavior.

How exciting is that?!

For people who don't have 20/20 vision they can wear glasses, contacts, or have laser eye surgery to improve their vision. For people that have hearing problems they can, if appropriate, have a cochlear implant, or wear a hearing aid, to improve their hearing. Now science could be on the cusp of figuring out how to improve cognition and memory for people with Down syndrome. It's the same thing - improving their quality of life. I think it's so wonder that research is being done on this subject at all.

We aren't talking about a cure here; this just could be something that has the potential to help people with Down syndrome have improved cognition and that could help them in so many different ways in their lives.

Kayla struggles so much with academics ... if they found a way to tweak that for her? To bring that protein back to typical levels? Oh the possibilities...

This will be research I hope to hear more about in the very near future.

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Anna said...

Wow! To enable our kids to be able to learn, just that much easier, to have to work not quite sooo hard on everything. What an exciting prospect!!

Anonymous said...

fascinating!!! love mom