Researchers Discover First Genes for Stuttering
News Feb 11, 2010
Stuttering may be the result of a glitch in the day-to-day process by which cellular components in key regions of the brain are broken down and recycled, says a study in the Feb. 10 Online First issue of the New England Journal of Medicine.
The study, led by researchers at the National Institute on Deafness and Other Communication Disorders (NIDCD), part of the National Institutes of Health, has identified three genes as a source of stuttering in volunteers in Pakistan, the United States, and England.
Mutations in two of the genes have already been implicated in other rare metabolic disorders also involved in cell recycling, while mutations in a third, closely related, gene have now been shown to be associated for the first time with a disorder in humans.
"For hundreds of years, the cause of stuttering has remained a mystery for researchers and health care professionals alike, not to mention people who stutter and their families," said James F. Battey, Jr., M.D., Ph.D., director of the NIDCD. "This is the first study to pinpoint specific gene mutations as the potential cause of stuttering, a disorder that affects 3 million Americans, and by doing so, might lead to a dramatic expansion in our options for treatment."
Stuttering is a speech disorder in which a person repeats or prolongs sounds, syllables, or words, disrupting the normal flow of speech. It can severely hinder communication and a person's quality of life. Most children who stutter will outgrow stuttering, although many do not; roughly 1 percent of adults stutter worldwide.
Current therapies for adults who stutter have focused on such strategies as reducing anxiety, regulating breathing and rate of speech, and using electronic devices to help improve fluency.
Stuttering tends to run in families, and researchers have long suspected a genetic component. Previous studies of stuttering in a group of families from Pakistan had been done by Dennis Drayna, Ph.D., a geneticist with the NIDCD, which indicated a place on chromosome 12 that was likely to harbor a gene variant that caused this disorder.
The findings open new research avenues into possible treatments for stuttering. For example, current treatment methods for some lysosomal storage disorders involve injecting manufactured enzyme into a person's bloodstream to replace the missing enzyme. The researchers wonder if enzyme replacement therapy might be a possible method for treating some types of stuttering in the future.
The researchers estimate that roughly 9 percent of people who stutter possess mutations in one of the three genes. Among the next steps, they are conducting a worldwide epidemiological study to better determine the percentage of people who carry one or more of these mutations. They are also conducting biochemical studies to determine specifically how the mutations affect the enzymes. A long-term goal is to use these findings to determine how this metabolic defect affects structures within the brain that are essential for fluent speech.
Lipid droplets have been found to play critical roles in the life cycles of certain proteins involved in gene expression. Now, a new study describes how lipid droplets regulate these proteins. The research has implications for understanding what helps embryos survive and could cause us to reconsider how we look at lipid-related diseases like obesity.READ MORE