Mutations in ‘metabolic’ gene cause some people to stutter

Mutations in a gene governing not speech, but a metabolic pathway involved in recycling old cell parts, is responsible for at least some persistent stuttering, a new study has revealed.

The study at Washington University School of Medicine in St. Louis found the first evidence that mutations affecting cellular recycling centres called lysosomes actually play a role in causing some people to stutter.

“This was extremely unexpected,” said senior author Stuart A. Kornfeld, MD, the David C. and Betty Farrell Professor of Medicine.

“Why would impairment in a lysosomal pathway lead to stuttering? 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,” he stated.

The research is available online in the Journal of Biological Chemistry.

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