Navigation Links
First Gene Variants Linked to Stuttering Discovered
Date:2/10/2010

Researchers say finding could lead to better therapies, earlier intervention

WEDNESDAY, Feb. 10 (HealthDay News) -- Researchers have identified the first gene mutations linked to stuttering.

Surprisingly, the three genes are also linked to some very severe and rare metabolic disorders, but most stutterers are only affected by the speech problem. The researchers estimate that these mutations account for about 9 percent of stuttering cases.

"This is the first gene information that will tell somebody that they're predisposed to develop this type of stuttering," said Dr. Robert Marion, director of the Center for Congenital Disorders at the Children's Hospital at Montefiore Medical Center in New York City. He was not involved in the study.

"At one point, we may be able to find these mutations and predict that this child with this mutation in this particular gene is likely to go on to develop stuttering," continued Marion, who authored Genetic Rounds: A Doctor's Encounters in the Field That Revolutionized Medicine. "The thinking would be that if we got a kid in speech therapy early on in life, it might prevent this from happening."

"Current therapies are limited in their effectiveness because they're all undertaken without understanding of what causes the disorder," added Dennis Drayna, senior author of the paper, which is published online Feb. 10 in the New England Journal of Medicine. "Now that we know what causes stuttering, we can think about more strategic ways of designing therapies."

Further down the line, enzyme replacement therapy may even be an option.

"Basically, you just give the normal enzyme back to the body," explained Drayna, who is a section chief at the National Institute on Deafness and Other Communication Disorders. "Enzyme therapy has been shown to be safe, but it's the distant future."

Investigators have long suspected that stuttering has a strong genetic component. Roughly 3 million Americans are affected by stuttering, according to background information in the study.

"There's been a sense for a long time that stuttering is an inherited condition. It seems to cluster in families," Marion said.

The researchers analyzed a section of chromosome 12 in a large Pakistani family that had been included in an earlier study by the same researchers.

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.

"This gene is involved in a process where the waste products of the cell are removed from the cell and processed in something called a lysosome, which is kind of the garbage can of the cell, the organelle that takes all the waste out of the cell and processes it so the cell doesn't poison itself," explained Marion.

That finding was unexpected, said Drayna. Why would genes regulating this kind of metabolic pathway be involved in stuttering?

"We think a special group of cells in the brain are particularly sensitive to these subtle mutations in these genes," Drayna said. "The mutations that also cause these very serious diseases wipe out the gene so none of the gene product is effectively made. Our mutations probably allow the gene product to be made but it probably doesn't work quite right. It's like a car that needs a tune-up. It still runs but not quite right," Drayna noted.

"Some cells in the body need this to run like a Ferrari in order to function properly and those cells are involved in the production of speech in the brain," he continued.

"That's the biggest scientific breakthrough in these findings. We now have a way, finally, to get at these cells and structures in the brain that are responsible for speech, which heretofore have been very difficult to study and not well understood," Drayna said.

"We have now a bunch of new experiments underway to try to prove or disprove this," he added.

More information

Visit the Stuttering Foundation of America for more on this condition.



SOURCES: Dennis Drayna, Ph.D., section chief, National Institute on Deafness and Other Communication Disorders, Bethesda, Md.; Robert Marion, M.D., chief, genetics and development medicine, and director, Center for Congenital Disorders, Children's Hospital at Montefiore Medical Center, New York City, and author Genetic Rounds: A Doctor's Encounters in the Field That Revolutionized Medicine; Feb. 10, 2010, New England Journal of Medicine, online


'/>"/>
Copyright©2010 ScoutNews,LLC.
All rights reserved

Related medicine news :

1. First biomarker discovered that predicts prostate cancer outcome
2. FDA Approves First Anti-Psychotic for Kids
3. Single-incision belly-button surgery to remove kidney performed first at UT Southwestern
4. First study examines newly-licensed RN work attitudes and intentions
5. Glades General Hospital First in Palm Beach County to Provide On-Site Electronic Birth Registration
6. UHW Announces: Antelope Valley Hospital Caregivers and Board Vote to Ratify First Union Contract With SEIU UHW-West
7. Father and Daughter From Tanzania Receive Their First Medical Examination in Newport Beach
8. High and mighty: first common height gene identified by researchers behind obesity gene finding
9. APA Comments on FDAs First Approval of Medication to Treat Pediatric Schizophrenia and Bipolar Disorder
10. TriWest Creates First-of-its-Kind Partnership to Offer Military Leaders With Grief Support Program
11. Watson Receives First FDA Approval for Manufacturing Product at Its Goa, India Facility
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:3/24/2017)... , ... March 24, 2017 , ... ... the military at the same time by providing Prehospital Trauma Life Support (PHTLS) ... is the world’s premier prehospital trauma education developed in cooperation with the American ...
(Date:3/24/2017)... ... March 24, 2017 , ... According to a new study by NCPA ... does not obey the rules Congress has directed the CBO to follow. The CBO ... reform would restore. Yet, it estimates a reduction in employer-based coverage due to the ...
(Date:3/24/2017)... , ... March 24, 2017 , ... ... $100,000 for its innovative EcoQube Frame vertical micro-veggies garden on Kickstarter . ... for the product – with nearly 2,000 consumers (and counting) already backing the ...
(Date:3/24/2017)... , ... March 24, 2017 , ... Viewers who like ... of critical historical facts, cultural practices, goods, services, and societal issues tend to appreciate ... look into the popular practice of utilizing running events for causes around the world. ...
(Date:3/24/2017)... ... 2017 , ... “End Time GPS”: a dauntless and enlightened study of ... GPS” is the creation of published author, Wesley Gerboth, a World War II veteran, ... space-vehicle projects. Now, at age ninety-one, he shares the Wisdom God bestowed upon him ...
Breaking Medicine News(10 mins):
(Date:3/24/2017)... March 23, 2017  Provectus Biopharmaceuticals, Inc. (OTCQB: ... a clinical-stage oncology and dermatology biopharmaceutical company, today ... Commitment Term Sheet (the "Definitive Financing") it entered ... the Company,s stockholders, who are referred to in ... Form 8-K filed with the Securities and Exchange ...
(Date:3/23/2017)... -- Research and Markets has announced the addition of ... to 2025" report to their offering. ... The Global Cryostat Market is poised ... decade to reach approximately $3.5 billion by 2025. This ... given segments on global as well as regional levels presented in ...
(Date:3/23/2017)... Research and Markets has announced the addition of the ... By Technique, Repair Procedure By Technique, By Region, By Country (2016-2021)" ... ... grow at a CAGR of 13.35% during 2016-2021 The ... population, growth in population with heart disease and rising advances in ...
Breaking Medicine Technology: