Metabolic pathway plays a role in susceptibility to stuttering

Stuttering is a disorder of unknown cause characterized by repetitions, prolongations, and interruptions in the flow of speech. Genetic factors have been implicated in this disorder, and previous studies of stuttering have identified linkage to markers on chromosome 12.

This study shows that variants of proteins that guide hydrolases to the lysosome are associated with stuttering. This unexpected finding implies a metabolic pathway in susceptibility to stuttering.


Video: Biology Homework about Lysosomes.

References:

Mutations in the Lysosomal Enzyme–Targeting Pathway and Persistent Stuttering. NEJM, 2010.