Stammering genes

Dr Dennis Drayna and his team have identified three related genes which have mutations in a proportion of people who stammer. The team estimate that roughly 9% of people who stammer with a family history of it possess mutations in one of these genes.

The genes are involved in encoding enzymes which assist in breaking down and recycling cellular components. The researchers wonder whether, in the future, enzyme replacement therapy might be a possible method for treating some types of stammering.

Among the next steps, the team are conducting a worldwide epidemiological study to better determine the percentage of people who carry one or more of these mutations. They are also conducting biochemical studies to determine specifically how the mutations affect the enzymes. A long-term goal is to use these findings to determine how this metabolic defect affects structures within the brain that are essential for fluent speech.

Norbert Lieckfeldt, Chief Executive of BSA, commented:

"This is just the latest in a string of recent discoveries highlighting the fact that the cause of stammering is physiological - a symptom that, for whatever reason, the brain's neural circuits for speech are not being wired normally.

"This puts into sharp relief the bullying and ridicule people who stammer often experience, as opposed to people experiencing, for instance, mobility disabilities.

"In addition to finding new forms of treatment, we hope this may help us identifying those children at risk of persistent stammering as it is only through early intervention that they have a chance of recovering fluent speech."