Navigation Links
Drug reverses mental retardation caused by genetic disorder
Date:6/22/2008

UCLA researchers discovered that an FDA-approved drug reverses the brain dysfunction inflicted by a genetic disease called tuberous sclerosis complex (TSC). Because half of TSC patients also suffer from autism, the findings offer new hope for addressing learning disorders due to autism. Nature Medicine publishes the findings in its online June 22 edition.

Using a mouse model for TSC, the scientists tested rapamycin, a drug approved by the FDA to fight tissue rejection following organ transplants. Rapamycin is well-known for targeting an enzyme involved in making proteins needed for memory. The UCLA team chose it because the same enzyme is also regulated by TSC proteins.

"This is the first study to demonstrate that the drug rapamycin can repair learning deficits related to a genetic mutation that causes autism in humans. The same mutation in animals produces learning disorders, which we were able to eliminate in adult mice," explained principal investigator Dr. Alcino Silva, professor of neurobiology and psychiatry at the David Geffen School of Medicine at UCLA. "Our work and other recent studies suggest that some forms of mental retardation can be reversed, even in the adult brain."

"These findings challenge the theory that abnormal brain development is to blame for mental impairment in tuberous sclerosis," added first author Dan Ehninger, postgraduate researcher in neurobiology. "Our research shows that the disease's learning problems are caused by reversible changes in brain function -- not by permanent damage to the developing brain."

TSC is a devastating genetic disorder that disrupts how the brain works, often causing severe mental retardation. Even in mild cases, learning disabilities and short-term memory problems are common. Half of all TSC patients also suffer from autism and epilepsy. The disorder strikes one in 6,000 people, making it twice as common as Huntington's or Lou Gehrig's disease.

Silva and Ehninger studied mice bred with TSC and verified that the animals suffered from the same severe learning difficulties as human patients. Next, the UCLA team traced the source of the learning problems to biochemical changes sparking abnormal function of the hippocampus, a brain structure that plays a key role in memory.

"Memory is as much about discarding trivial details as it is about storing useful information," said Silva, a member of the UCLA Department of Psychology and UCLA Brain Research Institute. "Our findings suggest that mice with the mutation cannot distinguish between important and unimportant data. We suspect that their brains are filled with meaningless noise that interferes with learning."

"After only three days of treatment, the TSC mice learned as quickly as the healthy mice," said Ehninger. "The rapamycin corrected the biochemistry, reversed the learning deficits and restored normal hippocampal function, allowing the mice's brains to store memories properly."

In January, Silva presented his study at the National Institute of Neurological Disorders and Stroke meeting, where he was approached by Dr. Petrus de Vries, who studies TSC patients and leads rapamycin clinical trials at the University of Cambridge. After discussing their respective findings, the two researchers began collaborating on a clinical trial currently taking place at Cambridge to examine whether rapamycin can restore short-term memory in TSC patients.

"The United States spends roughly $90 billion a year on remedial programs to address learning disorders," noted Silva. "Our research offers hope to patients affected by tuberous sclerosis and to their families. The new findings suggest that rapamycin could provide therapeutic value in treating similar symptoms in people affected by the disorder."'


'/>"/>

Contact: Elaine Schmidt
eschmidt@mednet.ucla.edu
310-794-2272
University of California - Los Angeles
Source:Eurekalert

Related biology news :

1. Blood vessel protein reverses macular degeneration, diabetic retinopathy in mice
2. Study finds environmental tests help predict hospital-acquired Legionnaires disease risk
3. Genes, Environment and Health Initiative invests in genetic studies, environmental monitoring
4. UCR engineers to develop new tool to measure how environmental exposures affect health
5. Old developmental pathways spawn revolutionary evolutionary changes
6. TAU scientists probe deep questions aboard EcoOceans environmental research ship
7. UCI researchers restore memory process in most common form of mental disability
8. Environmental setting of human migrations in the circum-Pacific Region
9. Nobel Peace Prize 2007 to intergovernmental panel on climate change
10. Mental disorders are disorders of the brain
11. UC-Riverside partners with Chinese university to address Chinas environmental problems
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:4/11/2017)... 11, 2017 Research and Markets has announced ... report to their offering. ... global eye tracking market to grow at a CAGR of 30.37% ... Tracking Market 2017-2021, has been prepared based on an in-depth market ... landscape and its growth prospects over the coming years. The report ...
(Date:4/6/2017)... Forecasts by Product Type (EAC), Biometrics, Card-Based ... & Logistics, Government & Public Sector, Utilities / Energy ... Nuclear Power), Industrial, Retail, Business Organisation (BFSI), Hospitality & ... for a definitive report on the $27.9bn Access Control ... ...
(Date:4/5/2017)... KEY FINDINGS The global market ... CAGR of 25.76% during the forecast period of 2017-2025. ... for the growth of the stem cell market. ... MARKET INSIGHTS The global stem cell market is segmented ... The stem cell market of the product is segmented ...
Breaking Biology News(10 mins):
(Date:8/15/2017)... ... , ... Kapstone Medical is proud to announce that it has ... and inventors develop and safeguard their latest innovations. The company has grown from ... of clients in the United States and around the world. , Company Founder ...
(Date:8/15/2017)... Pittsburgh, PA (PRWEB) , ... August 15, 2017 ... ... JASIS, one of the largest Asian exhibitions for analytical and scientific instruments. This ... Pittsburgh), will be “New Approaches in Mass Spectrometry for Bioanalytical Applications.” This dynamic ...
(Date:8/15/2017)... ... August 15, 2017 , ... Kenall, a ... downlights designed to stay tightly sealed and perform efficiently for years. The downlights ... location listings just aren't enough, such as: hospitals; behavioral health facilities; cleanrooms; containment ...
(Date:8/15/2017)... (PRWEB) , ... August 15, 2017 , ... ... and is threatened by various biotic and abiotic factors. During this educational webinar, ... history of coffee, as well as gain a better understanding of how genomics ...
Breaking Biology Technology: