Stuttering mouse experiment sheds light on common human speech disorder
Genetic mutation given to squeaky rodents found halting patterns in early life squeaks, investigating causes of the human stammer
The closest thing to a stuttering mouse has been created by scientists who gave rodents a genetic mutation that causes the speech disorder in humans.
Mouse pups recorded in the first week of life squeaked with more pauses and displayed more repetitive, halting patterns in the noises they produced when they carried the mutation.
But the mutated mice had no other obvious language problems and squeaked out the same rich repertoire of ultrasonic syllables defined by abrupt changes in pitch as normal mice.
Researchers at Washington University in St Louis worked on the mice to see whether some of the characteristics of human stuttering, or stammering, can be reproduced in rodents. The research aims to help scientists unpick the biological pathways that underpin stammering, and give them a ready way to test drugs and other potential treatments.
These mice arent stuttering but they show a lot of features that are similar to a human that stutters, so this is an incredibly powerful research tool, said Terra Barnes, whose study is published in Current Biology. This is a huge first step towards an animal model of stuttering.
Once you have an animal model for the condition, you can do a lot of things you cant do with humans. We can find the neural correlates of stuttering, identify the underlying biological mechanisms, and maybe work out how to fix it, she added.
In the past, stammering has been blamed on anxiety, stress and even bad parenting, but the primary driver for the disorder is now considered biological, with stress potentially exacerbating the condition. In 2008, scientists at Oxford University identified changes in the brain that appear to disrupt the neural pathways needed for fluent speech.
Two years later, a team led by Dennis Drayna at the National Institute on Deafness and other Communication Disorders in Maryland, found mutations in a gene called Gnptab that appeared to cause stuttering in some people. The discovery was a surprise, because the gene is only considered important for general housekeeping duties, such as digesting waste inside the bodies cells.
To find out whether rodents can be made to stutter, or at least display some aspects of the condition, Barnes, Drayna and other colleagues created mice that carried the Gnptab mutations. They then recorded the noises the mice made until they were eight days old. Mouse pups make spontaneous sounds when they are taken from their mothers, but also when they are in pain, meet another mouse, or want to attract a mate.
Each recording session lasted 3.5 minutes. The mutated mice produced nearly a third fewer sounds, with longer pauses between the noises they made. Within bouts of vocal activity, the mutated mice squeaked out more single syllables than their natural littermates. The pauses are similar to the hesitations that can break up the smooth flow of speech in people who stutter, while the repetition of syllables also mirrors human stammering.
While speech remains a uniquely human skill, the patterns of speech are built on simple building blocks. To speak clearly, people have to control the timing of their breath, the fine muscles in the tongue and mouth, and be able to initiate the movements. Those kinds of things may be shared all the way from mice to people, said Tim Holy, a senior author on the study.
The modified mice could help researchers work out how mutations in the Gnptab gene give rise to stammering and shed light on the related mystery of how the mutation, which would affect every cell in the body, leads to a condition as specific as stuttering.