Defective genes cause stuttering
National Institute on Deafness and Other Communication Disorders

A recent study stated that stuttering, a speech problem, that has affected millions of people across the globe might be due to defects in three genes.

Dennis Drayna, a geneticist and senior author of the study, said "People have speculated about the cause of stuttering for thousands of years and finally, we know at least some of the cause.”

Drayna and his team from the National Institute on Deafness and Other Communication Disorders (NIDCD) studied the genes of 123 Pakistanis who stutter and 96 people who do not stutter. Around 550 people from the United States and England were also analyzed and half of them stuttered.

According to the study those who stuttered had GNPTAB mutations alongwith mutations in GNPTG and NAGPA genes. It was found that mutations were absent in people who did not stutter.

Apart from speech problems mutations in GNPTAB and GNPTG are responsible for two forms of mucolipidosis.

James Battey, director of the NIDCD, stated it was the first time that specific gene mutations responsible for stuttering was studied. These findings open new options for treatment also.

Drayna added that, "A recent exciting development in lysosomal disorders is enzyme replacement therapy, where you simply give back the enzyme that is defective to people with the disorder. So we now have the exciting possibility that in future, we could also use enzyme replacement therapy to correct stuttering."

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