Metabolic pathway 'unexpectedly' implicated in stuttering
Wednesday 23rd November 2011
A metabolic pathway has been implicated in the mechanisms behind stuttering, no doubt surprising some people with a speech therapy job.
Researchers at Washington University School of Medicine in St Louis have found that at least some persistent stuttering is caused by mutations in a gene governing a metabolic pathway involved in recycling old parts of cells.
This study, published online in the Journal of Biological Chemistry, provides the first evidence that mutations affecting cellular recycling centers called lysosomes play a role in causing some people to stutter.
Senior author of the study, Stuard A Kornfeld, described the findings as "extremely unexpected".
"Why would impairment in a lysosomal pathway lead to stuttering?" he questioned.
"We don't know the answer to that. Partly because we don't know very much about the mechanisms of speech, including which neurons in the brain are involved. So we can't fully explain stuttering, but now we have clues."
This comes after a study published in the New England Journal of Medicine studied members of a large Pakistani family - many of whom stutter.
Most of the family members with a stutter were found to have mutations in three genes which were involved in directing proteins to the lysosome.
Furthermore, these mutations were also located in many unrelated individuals in Pakistan, North America and Europe with a stutter. However, they were not found in people who did not have the speech impediment.
One of the three genes, known as NAGPA, was found to have three separate mutations in individuals who stutter, according to Dennis Drayner, of the National Institute on Deafness and Other Communication Disorders, and his colleagues.
The team is now looking for any such harmful mutations in the other two genes identified - GNPTAB and GNPTG.
Study authors believe that such findings offer a glimpse at possible future therapies for stuttering.
Posted by Megan Smith
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