Navigation Links
Surprising pathway implicated in stuttering
Date:11/22/2011

Researchers at Washington University School of Medicine in St. Louis have obtained new evidence that at least some persistent stuttering is caused by mutations in a gene governing not speech, but a metabolic pathway involved in recycling old cell parts.

Beyond a simple association, the study provides the first evidence that mutations affecting cellular recycling centers called lysosomes actually play a role in causing some people to stutter.

"This was extremely unexpected," says senior author Stuart A. Kornfeld, MD, the David C. and Betty Farrell Professor of Medicine. "Why would impairment in a lysosomal pathway lead to stuttering? We don't know the answer to that. Partly because we don't know very much about the mechanisms of speech, including which neurons in the brain are involved. So we can't fully explain stuttering, but now we have clues."

The research is available online in the Journal of Biological Chemistry.

Genetic clues to stuttering were first identified in a paper published in the New England Journal of Medicine in February 2010. In it, Dennis Drayna, PhD, a senior investigator with the National Institute on Deafness and Other Communication Disorders and a co-author on the current study, and his colleagues reported results of genetic studies on members of a large Pakistani family, many of whom stutter.

Among most of the stuttering family members, they found mutations in three genes involved in directing proteins to the lysosome. These same mutations were present in many unrelated individuals in Pakistan, North America and Europe who stutter, but not in those with normal speech.

"They found mutations in three genes that encode a pathway for directing newly made lysosomal enzymes to the lysosomes," Kornfeld says. "And it turned out to be a pathway we discovered years ago. So this is a nice collaboration."

Until now, one of the three genes, NAGPA, had not been implicated in
'/>"/>

Contact: Judy Martin
martinju@wustl.edu
314-750-4213
Washington University School of Medicine
Source:Eurekalert

Page: 1 2 3

Related medicine news :

1. Cosmetic Surgery Error in New York Strikes Medical Malpractice Lawyers as Unsurprising
2. Stanford/Packard study finds surprising disparity in where chronically ill kids hospitalized
3. Anger Spurs Surprising Changes in the Body
4. Surprising find may yield new avenue of treatment for painful herniated discs
5. Pancreatic Cancer Surprisingly Slow to Arise: Study
6. Study finds surprising gender differences related to sexual harassment
7. Surprising finding from smoke inhalation study
8. Surprising drop in physicians willingness to accept patients with insurance
9. Neuroscientists find famous optical illusion surprisingly potent
10. The Generation X Report: U-M survey paints a surprisingly positive portrait
11. Molecular pathways linked to sex, age affect outcomes in lung cancer
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:4/22/2014)... 2014Hemoglobin A1c is the standard measurement for assessing glycemic ... of A1c are typically measured every few months in ... model that accurately estimates A1c using self-monitored blood glucose ... Therapeutics ( DTT ), a peer-reviewed journal from ... free on the DTT website at ...
(Date:4/22/2014)... LAKE CITY)A computational tool developed at the University of ... unknown gene mutations in three separate cases, U of ... study in The American Journal of Human Genetics ... tool), identifies undiagnosed illnesses and unknown gene mutations by ... that code for genes are made, in individual patients ...
(Date:4/22/2014)... cell lung cancer are 70 years of age or ... are not well represented in clinical trials. Therefore, the ... reach evidence based clinical recommendations. , In 2010, the ... Cancer Group along with the International Society for Geriatric ... for elderly patients with non-small cell lung cancer (NSCLC), ...
(Date:4/22/2014)... exposed to trauma, illness, alcohol or other drug abuse, ... brain cells that can go awry and activate conditions ... of autism. , Until now, it has been unclear ... a developing brain. Past studies have shown that when ... abuse or she experiences some trauma or illness, her ...
(Date:4/22/2014)... 2014) Cedars-Sinai stroke intervention researchers have been informed ... part of the National Institutes of Health, will award ... II clinical trial of an experimental drug for stroke. ... combination with recombinant tissue plasminogen activator, or rtPA ... shortly after onset. In laboratory rodent studies, 3K3A-APC, used ...
Breaking Medicine News(10 mins):Health News:Applying math to biology: Software identifies disease-causing mutations in undiagnosed illnesses 2Health News:Applying math to biology: Software identifies disease-causing mutations in undiagnosed illnesses 3Health News:EORTC and SIOG update expert opinion on management of elderly patients with NSCLC 2Health News:Life stressors trigger neurological disorders, researchers find 2Health News:$8 million NIH grant will fund multicenter clinical trial of stroke intervention drug 2Health News:$8 million NIH grant will fund multicenter clinical trial of stroke intervention drug 3
... November 2, 2009 (Downey, Calif.) Aggressively managing patients at ... the United States by 25 percent, according to a Kaiser ... Journal of Bone & Joint Surgery . The first step ... osteoporosis disease management, researchers say. This study, the largest ...
... screening in high-risk study patients , MONDAY, Nov. 2 ... at high risk for lung cancer, researchers say. , ... people in Colorado who were seeing their primary care ... complete a five-minute questionnaire that collected information about lung ...
... SINGAPORE, Nov. 2 /PRNewswire-Asia/ -- GfK ... information in line with the,17th Hong Kong Optical Fair, hosted ... in October 2009 include China, Hong Kong, Korea,Singapore and Malaysia. ... be better or the same in 2010. , ...
... athletes, who wear helmets in their careers, to help erase ... YORK, Nov. 2 November is Epilepsy Awareness Month. The ... American Epilepsy Outreach Foundation (AEOF) has joined with ... Annual Helmets for Hope(TM) Campaign. The Helmets for Hope(TM) is ...
... Preliminary evaluation after completion of treatment ... has been met for patients with advanced-stage, ... 2 /PRNewswire-FirstCall/ - AEterna Zentaris Inc. (TSX: AEZ; Nasdaq: ... focused on endocrine therapy and oncology, today announced positive ...
... ... is expanding operations in the U.S. Martel provides custom printer solutions for products such ... equipment. Martel,s customers in the U.S. include Abbott Laboratories. , ... (PRWEB) November 2, 2009 -- Martel ...
Cached Medicine News:Health News:Nation's hip fracture rate could drop 25 percent with aggressive osteoporosis prevention 2Health News:Nation's hip fracture rate could drop 25 percent with aggressive osteoporosis prevention 3Health News:Asian Optical Retailers Upbeat about 2010 2Health News:Asian Optical Retailers Upbeat about 2010 3Health News:Helmets for Hope Campaign and Gala 2Health News:AEterna Zentaris Announces Positive Preliminary Results for Phase 2 Study with LHRH-Receptor Targeted Cytotoxic Conjugate AEZS-108 in Ovarian Cancer 2Health News:AEterna Zentaris Announces Positive Preliminary Results for Phase 2 Study with LHRH-Receptor Targeted Cytotoxic Conjugate AEZS-108 in Ovarian Cancer 3Health News:AEterna Zentaris Announces Positive Preliminary Results for Phase 2 Study with LHRH-Receptor Targeted Cytotoxic Conjugate AEZS-108 in Ovarian Cancer 4Health News:Martel Instruments Expands Its Custom Printer Solutions Business in North America; Liz Peirce Named Director of North American Business Development 2
(Date:1/15/2014)... an unprecedented effort to curb the spread of "superbugs" such as ... an advanced and portable UV germicidal lamp manufactured by MRSA-UV is ... In order to prevent EMS paramedics and transport patients ... Palm Beach Fire Rescue is the first in the ...
(Date:1/15/2014)... Jan. 15, 2014  Echo Therapeutics, Inc. (Nasdaq: ... Symphony® CGM System as a non-invasive, wireless continuous glucose ... , Executive Chairman and Interim CEO of Echo Therapeutics, ... Annual Equity Conference. Mr. Doman will ...
(Date:1/15/2014)... , Jan. 15, 2014 Reportlinker.com ... is available in its catalogue: ... – Worldwide Analysis http://www.reportlinker.com/p01957812/Insulin-Pump-Market--Forecast-–-Worldwide-Analysis.html#utm_source=prnewswire&utm_medium=pr&utm_campaign=Medical_Equipment_and_Supply ... Analysis Insulin Pumps ...
Breaking Medicine Technology:Superbugs No Longer Ride In Rescue Vehicles 2Echo Therapeutics to Present at the Noble Financial Capital Markets' Tenth Annual Equity Conference 2Echo Therapeutics to Present at the Noble Financial Capital Markets' Tenth Annual Equity Conference 3Insulin Pump Market & Forecast - Worldwide Analysis 2Insulin Pump Market & Forecast - Worldwide Analysis 3Insulin Pump Market & Forecast - Worldwide Analysis 4Insulin Pump Market & Forecast - Worldwide Analysis 5Insulin Pump Market & Forecast - Worldwide Analysis 6Insulin Pump Market & Forecast - Worldwide Analysis 7Insulin Pump Market & Forecast - Worldwide Analysis 8Insulin Pump Market & Forecast - Worldwide Analysis 9Insulin Pump Market & Forecast - Worldwide Analysis 10Insulin Pump Market & Forecast - Worldwide Analysis 11Insulin Pump Market & Forecast - Worldwide Analysis 12Insulin Pump Market & Forecast - Worldwide Analysis 13Insulin Pump Market & Forecast - Worldwide Analysis 14Insulin Pump Market & Forecast - Worldwide Analysis 15Insulin Pump Market & Forecast - Worldwide Analysis 16Insulin Pump Market & Forecast - Worldwide Analysis 17
... The Bill & Melinda Gates Foundation today announced that Dr. ... Health Program. Mundel, who is currently global head of development ... will start work at the foundation on December 1. ... to lead our global health program," said Bill Gates, co-chair ...
... Kan., Sept. 13, 2011 Bayer HealthCare LLC, Animal ... treatment system at its U.S. headquarters in Shawnee, Kan. ... one million gallons of water, or the equivalent of ... proprietary wastewater system began in early 2010 by CDI ...
Cached Medicine Technology:Gates Foundation Names Dr. Trevor Mundel to Lead Global Health Program 2Bayer Conserves One Million Gallons of Water through Wastewater Treatment Process at Shawnee Headquarters 2Bayer Conserves One Million Gallons of Water through Wastewater Treatment Process at Shawnee Headquarters 3Bayer Conserves One Million Gallons of Water through Wastewater Treatment Process at Shawnee Headquarters 4
...
...
The Lineage acetabular system with metal liners uses sophisticated manufacturing methods and materials to minimize wear debris generation....
The Pivot Bipolar was designed with a simple one-step assembly interface between the femoral head and the compression molded liner which requires no instruments and reduces OR time....
Medicine Products: