SFA RESEARCH SPRING 2024
UNLOCKING
THE GENETICS OF STUTTERING
Stuttering is a common speech disorder that interrupts speech fluency and tends to cluster in families.
Researchers have identified many genes that influence other severe speech disorders, like apraxia of speech and dysarthria, including through our programs at the Murdoch Children’s Research Institute’s Speech & Language Research Program and the NHMRC Centre of Research Excellence Translational Centre for Speech Disorders.
But despite over 20 years of research, the genetic architecture of stuttering remains poorly understood. Only four genes that cause stuttering have been identified to date. This is very different to other neurodevelopmental conditions where tens to hundreds of genes have been identified.
Our large team of researchers, led by the University of Melbourne in collaboration with 17 international institutions, has discovered a link between a newly discovered gene pathway and structural brain anomalies in some people who stutter into adulthood, opening up promising research avenues to enhance the understanding of persistent developmental stuttering.
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In research published in the journal Brain, we studied 27 members of a four-generation Australian family; ten members of this family have stuttering and three used to have stuttering but this was resolved in adulthood after therapy.
Using brain imaging we found remarkable structural changes in the brains of those that stutter, that impact their speech and language development.
We also found a variant of a newly discovered gene called PPID in the family members with severe developmental stuttering. PPID codes for a chaperone protein, and so for the first time we have a link between stuttering and a ‘chaperone pathway.’
Chaperones are proteins that shuttle other proteins to the correct part of a cell so they can complete their function. We suspect the damaged PPID gene changes the movement and function of various proteins during brain development, triggering neural changes that cause persistent stuttering.
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