Friday, December 2, 2011

Surprising Pathway Implicated In Stuttering



Researchers at Washington University School of Medicine have found new discoveries about stuttering. They say that at least some persistent stuttering is caused by mutations in a gene in a metabolic pathway involved in recycling old cell parts. These cellular recycling centers are called lysosomes.



Researchers do not know the answer to why this is, but now that there are clues, they can figure things out further. Why impairment in the pathway of the lysosomes lead to stuttering is what is confusing researchers. Some genetic clues are allowing them to figure things out a little easier. However, there are billions of neurons in the brain, so it is very hard to figure out which ones are involved in speech.



There were three mutations found in a gene called NAGPA. This gene encodes an enzyme responsible for the final step in "addressing" protiens to the lysosome. All three mutations in this gene were identified in people who stutter. These findings are said to offer possibilities in therapy for stuttering in the future. In order to figure out why this is all happening, researchers are performing biochemical analyses on these mutated genes.



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