Navigation Links
Brain Defect Helps Drive Fragile X Syndrome
Date:9/20/2007

The condition is leading cause of inherited mental retardation

THURSDAY, Sept. 20 (HealthDay News) -- A newly discovered brain defect might be a target for the treatment of the inherited mental disorder known as fragile X syndrome, researchers report.

The discovery in rats provides an understanding of how the gene mutation responsible for the condition changes the way brain cells communicate, according to the report in this week's issue of the Proceedings of the National Academy of Sciences.

"Fragile X syndrome is the most common form of inherited mental retardation," explained co-author Gary J. Bassell, a professor of cell biology at Emory University in Atlanta. "It has strong links to autism and epilepsy."

Fragile X syndrome occurs in approximately one in 4,000 males and one in 8,000 females, Bassell noted.

Working with rat brain cells, the team found that synapses between brain cells in the part of the brain called the hippocampus are defective in animals with fragile X, Bassell said.

"We discovered what the specific underlying defect is," he said. "It is actually a defect in the mGluR5 receptor, which is on the surface of neurons. The defect is that there is excessive signaling."

Children with fragile X have difficulty in processing information, because these receptors allow too much signaling and change the function of other receptors, Bassell theorized.

When his team treated the receptor with an mGluR5 antagonist called MPEP, they were able to reverse the effects of the mutation. "When you quiet down this receptor, it corrects the defects that occur in other receptors as well," he noted.

Bassell stressed that MPEP is not a suitable drug for humans. However, the discovery should help researchers find other drugs that do the same thing safely.

Any drug that targets the receptor will not be a cure for fragile X, Bassell cautioned. "These children have a permanent defect in their DNA," he said. "The goal here is to improve the quality of life for these children. We are going to decrease the severity of episodes to help them focus better on learning tasks and help with the behavior problems and improve their cognitive function," he said.

One expert hailed the finding.

"This is a very important paper," said Dr. Randi Hagerman, a professor of pediatrics and medical director of the M.I.N.D. Institute at the University of California, Davis. "It proves that mGluR5 antagonists will be helpful in kids with fragile X syndrome," she added. "We are looking forward to a new age of treatment in fragile X syndrome."

Hagerman noted that trials with mGluR5 antagonists on adults with fragile X syndrome will be starting this fall. "If things go well with adults, then we will move to pediatric trials," she said.

"This is a very hopeful message," Hagerman said. "This means that there will be very specific treatments that will have an impact in the very near future."

Another expert agreed that the discovery should lead to new treatments for children with fragile X.

"This is a very exciting paper, which is a powerful confirmation of the mGluR theory of fragile X," said Dr. Michael Tranfaglia, medical director of the FRAXA Research Foundation. "Since FRAXA Research Foundation is currently working with several pharmaceutical companies to bring mGluR5 antagonists into clinical trials for fragile X, we are delighted to see this elegant proof of the therapeutic potential of this class of drugs."

More information

For more information on fragile X syndrome, visit the Fragile X Research Foundation.



SOURCES: Gary J. Bassell, Ph.D., professor, cell biology, Emory University, Atlanta; Randi Hagerman, M.D., professor, pediatrics, and medical director, M.I.N.D. Institute, University of California, Davis; Michael Tranfaglia, M.D., medical director, FRAXA Research Foundation, Newburyport, Mass; Sept. 17-21, 2007, Proceedings of the National Academy of Sciences


'/>"/>
Copyright©2007 ScoutNews,LLC.
All rights reserved

Related medicine news :

1. Use of Cellular Phones associated with Increased risk of Brain Tumors
2. Brain death – How to cope with it
3. Multi billion-dollar suit filed against cell phone firm for causing brain tumours
4. “Brain fingerprinting”- The new lie detectr
5. Nasal Spray Could Take Drugs Direct to Brain.
6. Two doctors suspended for wrong brain surgery
7. The brain loves a surprise
8. Virus Combats Brain Tumour
9. Increase in sugar...decrease in brain function!!!
10. Alcohol shrinks brain
11. Roller coaster takes brain for a big ride!!
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:2/12/2016)... Angeles, CA (PRWEB) , ... February 12, 2016 , ... ... With a hectic schedule, a demanding job, and no time to decompress, Rabinowitz found ... she dedicated herself to meditation for its impact on her life, implementing a 20-minute-per-day ...
(Date:2/12/2016)... ... February 12, 2016 , ... The ... Zuckerberg San Francisco General Hospital on April 5-7. The series is a multi-day, ... new habits. The workshops cover a broad range of topics, including coaching skills, ...
(Date:2/12/2016)... ... February 12, 2016 , ... Fisher House Foundation Chairman and CEO Kenneth Fisher ... Military Support Alliance president Scott Bensing, and Peggy Kearns Director, VA Southern Nevada Healthcare ... System. This will be the first Fisher House in Nevada, and will provide ...
(Date:2/12/2016)... ... ... Vail knee specialist Robert LaPrade, MD, PhD was named one of ... of physicians establishing, leading and partnering with ambulatory surgery centers across the United States. ... also known as an ASC, is a modern health care facility focused on providing ...
(Date:2/12/2016)... ... February 12, 2016 , ... Donor Network West, the organ procurement organization ... a partnership with San Ramon Regional Medical Center. Under the collaboration, the first of ... way to accommodate a more certain time frame for donor families for the recovery ...
Breaking Medicine News(10 mins):
(Date:2/11/2016)... The primary goal of this research is ... the usage of liquid biopsy. Key information the survey ... Timeframe of liquid biopsy adoption amidst future users - ... type - Sample inflow to conduct liquid biopsy tests ... and so on. - Correlation analysis of sample type ...
(Date:2/11/2016)... OAKLAND, Calif. , Feb. 11, 2016  Walgreens ... stores across 39 states and Washington, D.C. ... in a move that was commended by shareholder advocacy organization ... President at As You Sow. "Many people hold on to ... options, which can have tragic consequences." --> ...
(Date:2/11/2016)... 2016  MiMedx Group, Inc. (NASDAQ: MDXG ), ... and other birth tissues, human skin and bone, and ... advanced products and therapies, announced today that it will ... Conference in New York , NY.  ... J. Senken , Chief Financial Officer and Chris ...
Breaking Medicine Technology: