Friday, May 24, 2013

Enzyme related to Stuttering determined

I am in exam stress, but check out this article. Chemists have unravelled the internal structure of a protein linked to stuttering in 5% or so of the stuttering population.

This information is useful in understanding how the structure of this "abnormal" protein might cause neuro-anatomical difference in people's brains. But proteins complex 3D beasts that change their structure with temperature and pressure, so any clear cut statements might be difficult to reach unless in a few exceptions.

5 comments:

Burk Braun said...

Thanks, Tom! - Better link.

Burk Braun said...

Better structure link.

Tom Weidig said...

So can you tell us more about this? You are working on that kind of stuff no?? How about a guest post? ;-)

Burk Braun said...

Hi, Tom-

If readers are interested in the molecular biology of the uncapping enzyme and the transgolgi network, this is a good review. And here is the paper about the particular mutations found in stuttering in this pathway. But how the molecular biology connects with stuttering is completely mysterious- so far only a genetic connection exists, and we can only speculate on its nature- conceivably due to extreme loads on the secretion pathway in certain neurons, or some other obscure effect. Whether the effect is continuous (happens as long as the mutation is active) or developmental (set in stone at some point in development, such as of the nervous system) is perhaps the most significant question. The mutations found are all loss-of-function, which reduce the prospects for intervention with something like a drug, in molecular terms.

It is great to hear about this work, though.

Tom Weidig said...

"Whether the effect is continuous (happens as long as the mutation is active) or developmental (set in stone at some point in development, such as of the nervous system) is perhaps the most significant question"

Totally agree. That is the key question!