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Surprising pathway implicated in stuttering
Date:11/22/2011

any human disorder. This is where Kornfeld and Wang-Sik Lee, PhD, research instructor in medicine at Washington University, began their in-depth biochemical investigation of the mutations that Drayna's group identified.

NAGPA encodes an enzyme responsible for the last step in "addressing" proteins to the lysosome. Drayna's work identified three separate mutations in NAGPA in individuals who stutter. And according to Lee's biochemical analysis, all three of the mutations impaired the enzyme, but each did so in a different way. In general, mutations in a gene often cause the resulting protein to be folded into the wrong shape. Cells are very good at recognizing misfolded proteins and destroying them.

In this case, Lee's biochemical analysis shows that two mutations appear to trap the proteins in the cell's protein manufacturing center, though some get out before being destroyed.

"It's not an all-or-nothing thing," Kornfeld says. "Of the material that does get out, its activity is normal."

But the third mutation causes a larger folding problem and the protein is destroyed just minutes after being made.

Such findings offer a glimpse at possible future therapies for stuttering. For two of the mutations at least, the problem is not that the protein can't function, but rather that it can't get out of the cell's protein manufacturing center and go to the intracellular site where it acts to direct proteins to lysosomes. If some compound can be found that helps the protein escape, Lee's work suggests that it would function normally. But Kornfeld cautions that this type of therapy for stuttering is a long way off.

"There are billions of neurons in the brain, and we have very little idea which neurons are involved in speech," he says. "Our main finding is that these three mutations in NAGPA in people with persistent stuttering all have harmful effects. This is biochemical evidence that these mutations are meaningful, and not
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Contact: Judy Martin
martinju@wustl.edu
314-750-4213
Washington University School of Medicine
Source:Eurekalert

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