Genes Underlying Stuttering Identified

Today the NIH reported the first identification of genes underlying stuttering. In the study, published today in the New England Journal of Medicine, researchers identified three mutations on the GNPTAB gene, which is responsible for encoding an enzyme that assists in the lysosomal breakdown/recycling of cellular components.

The two other genes identified by researchers are GNPTG (which works with GNPTAB to encode the enzyme mentioned above), and NAGPA (which encodes another enzyme immediately downstream of GNPTAB).

Interestingly, mutations in GNPTG and GNPTAB have already been implicated in the lysosomal storage disorders mucolipidosis II and III.

This discovery may pave the way for treatments for stuttering similar to those already used to treat lysosomal storage disorders (injecting missing enzymes directly into bloodstream).

Kang et al. Mutations in the Lysosomal Enzyme-Targeting Pathway and Persistent Stuttering. NEJM. 10.1056/NEJMoa0902630


Astra Bryant

Astra Bryant is a graduate of the Stanford Neuroscience PhD program in the labs of Drs. Eric Knudsen and John Huguenard. She used in vitro slice electrophysiology to study the cellular and synaptic mechanisms linking cholinergic signaling and gamma oscillations – two processes critical for the control of gaze and attention, which are disrupted in many psychiatric disorders. She is a senior editor and the webmaster of the NeuWrite West Neuroblog