Using genetics to understand stuttering

2012

Challenge

Stuttering is a common but poorly understood speech disorder. Current therapy options show only limited long-term success for individuals who stutter beyond childhood.

Advance

Recognizing that stuttering often runs in families, IRP researchers led by Dennis Drayna, Ph.D., sought to understand the disorder’s hereditary basis. The team identified a number of mutations in three genes that control the production of enzymes involved in cellular waste disposal via the lysosome. When these enzymes are disrupted, bone, connective tissue, and neurologic symptoms typically follow.

Impact

The discovery that stuttering may have a genetic component related to the lysosome has spurred further research towards understanding how dysregulation of this biochemical pathway could give rise to stuttering and what pharmacotherapeutic options may be effective in treatment.

Publications

Raza MH, Amjad R, Riazuddin S, Drayna D. (2012). Studies in a consanguineous family reveal a novel locus for stuttering on chromosome 16q. Hum Genet. 131(2), 311-3.

Raza MH, Riazuddin S, Drayna D. (2010). Identification of an autosomal recessive stuttering locus on chromosome 3q13.2-3q13.33. Hum Genet. 128(4), 461-3.

Kang C, Riazuddin S, Mundorff J, Krasnewich D, Friedman P, Mullikin JC, Drayna D. (2010). Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering. N Engl J Med. 362(8), 677-85.