Stuttering may be linked to genetic defects in basic metabolic process.

USA Today (2/11, Rubin) reports that researchers at the National Institute on Deafness and Other Communication Disorders “for the first time have identified genetic variations associated with stuttering, and the study’s senior author says his team was ‘kind of shocked’ that two of the implicated genes were linked to rare, fatal metabolic disorders.” In other words, the “genes are extremely well-known and studied by people who have been in this field for decades,” Dennis Drayna explained.

According to the Los Angeles Times (2/11, Maugh), the research could eventually “help identify children who are likely to develop stuttering problems, allowing early initiation of treatments that can minimize or eliminate the problem.” Still “further in the future, it could lead to new treatments to overcome the biological underpinnings of the disorder.”

The genes “control the breakdown and recycling of substances in cells in key regions of the brain linked with speech,” the UK’sIndependent (2/11, Laurance) reports. The metabolic disorder in question, mucolipidosis, is “caused by an enzyme deficiency which has severe effects on the development of the heart, lungs, liver and joints.” Notably, “some cases of mucolipidosis can be treated with injections of enzymes, and the researchers speculate that similar enzyme replacement therapy might one day be used as a treatment for stuttering too.”

For years though, “stuttering has been attributed to such things as nervousness, lack of intelligence, stress, or bad parenting,” according to the AP (2/11, Nano). Indeed, “stuttering tends to run in families, and previous research suggested a genetic connection.” But, “researchers had not been able to pinpoint any culprit genes.”

So, the current team of scientists decided to analyze “a section of chromosome 12 in a large Pakistani family that” they had included in an earlier study, HealthDay (2/10, Gardner) reported. “As it turned out, several mutations in the GNPTAB, GNPTG, and NAGPA genes were present in people who stuttered, but not in other study participants,” according to the paper in the Journal of American Medical Association.

Further “analysis led the researchers to estimate that about 9% of people who stutter and have a family history of the condition have mutations in one of the three genes,” WebMD (2/10, Boyles). BBC News (2/11) and the UK’s Telegraph (2/11, Alleyne) also cover the study.

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