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:10/12/2017)... ... ... The American College of Medical Informatics (ACMI) will present the 2017 Morris ... of AMIA’s Annual Symposium in Washington, D.C. AMIA’s Annual Symposium is taking ... in the field of medical informatics, this prestigious award is presented to an individual ...
(Date:10/12/2017)... ... 12, 2017 , ... Dr. Parsa Mohebi, the Los Angeles ... to the newly revamped Cosmetic Town journal section, featuring articles written ... known as Follicular Unit Extraction (FUE). , Dr. Mohebi says “I ...
(Date:10/12/2017)... (PRWEB) , ... October 12, 2017 , ... On Saturday, ... a treadmill relay – Miles by Moonlight to raise money for the American Heart ... or more. , Teams will work together to keep their treadmills moving for ...
(Date:10/12/2017)... ... 2017 , ... In the United States, single-family home owners ... New York, New Jersey, Massachusetts, Texas, Virginia, Connecticut, and California—the average is $7,000 ... property-tax rates, which contributes to the relatively lower cost of living in places ...
(Date:10/12/2017)... (PRWEB) , ... October 12, ... ... in life sciences content management, presents its enhanced Pepper Flow promotional review ... 16 -18, 2017. Pepper Flow’s increased insight-driven capabilities help marketers streamline the ...
Breaking Medicine News(10 mins):
(Date:10/10/2017)... , Oct. 10, 2017  NDS received FDA 510(k) clearance in ... medical-grade battery-powered display stand specifically designed for endoscopy environments. An innovative ... into a clinical solution to support the improvement of patient outcomes, ... Design ... Solution ...
(Date:10/4/2017)... , Oct. 4, 2017  According to the Centers for Disease ... end of October . PhysicianOne Urgent Care is helping communities across ... Westchester, NY , by offering no-cost* flu shots through the end ... mandated by certain health insurance regulations. ... The best time to get a flu shot is by the end ...
(Date:10/2/2017)... Labs announces the European launch of their new low volume, high ... in Cambridge, U.K on October 4th. The ... with unprecedented speed and sensitivity while using far less sample volume ... ... ...
Breaking Medicine Technology: