Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Fragile X retardation syndrome corrected in mice

20.12.2007
Researchers working with mice have significantly alleviated a wide range of abnormalities due to fragile X syndrome by altering only a single gene, countering the effects of the fragile X mutation.

They said their achievement offers the potential for treatment of the disorder, the most common form of inherited mental retardation and a leading identified genetic cause of autism. There is currently no treatment or therapy for fragile X syndrome, whose symptoms include mental retardation, epilepsy, and abnormal body growth.

Mark Bear and colleagues reported their findings in an article in the December 20, 2007, issue of the journal Neuron, published by Cell Press.

Fragile X syndrome is known to be caused by loss of the gene for “fragile X mental retardation protein” (FMRP), which is believed to act as a brake on protein synthesis in specific areas of brain circuitry. The authors’ idea was that loss of the “brake” would allow another protein that stimulates this process, called metabotropic glutamate receptor 5 (mGluR5), to function unchecked.

... more about:
»FMRP »Fragile »Mutant »Syndrome »mGluR5 »reduction »retardation

In their experiments to test this idea, the researchers studied mice that produce many of the characteristic pathologies of fragile X in humans due to a loss of the FMRP gene. The critical test, though, was when they also created double mutant mice that lacked both the FMRP gene and had a 50% reduction in mGluR5. They chose only to reduce the activity of the metabotropic glutamate receptor gene, rather than eliminate it, in order to reflect what might be achieved using drug treatment for fragile X in humans.

Their tests on the double mutant mice revealed that the mGluR5 gene reduction greatly alleviated many abnormalities produced by loss of FMRP. The double mutant mice showed a rescue of abnormalities in brain structure and function, brain protein synthesis, memory, and body growth.

For example, loss of the FMRP gene produces overgrowth of the connections among neurons called dendritic spines. However, the additional 50% reduction in mGluR5 gene produced mice with completely normal spine density.

The double mutants also showed substantial reduction in epileptic seizures caused by lack of FMRP, found the researchers.

They concluded that “it is remarkable that by reducing mGluR5 gene dosage by 50%, we were able to bring multiple, widely varied fragile X phenotypes significantly closer to normal.”

They also concluded that “These findings have major therapeutic implications for fragile X syndrome and autism.”

Cathleen Genova | EurekAlert!
Further information:
http://www.cell.com

Further reports about: FMRP Fragile Mutant Syndrome mGluR5 reduction retardation

More articles from Life Sciences:

nachricht New risk factors for anxiety disorders
24.02.2017 | Julius-Maximilians-Universität Würzburg

nachricht Stingless bees have their nests protected by soldiers
24.02.2017 | Johannes Gutenberg-Universität Mainz

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Breakthrough with a chain of gold atoms

In the field of nanoscience, an international team of physicists with participants from Konstanz has achieved a breakthrough in understanding heat transport

In the field of nanoscience, an international team of physicists with participants from Konstanz has achieved a breakthrough in understanding heat transport

Im Focus: DNA repair: a new letter in the cell alphabet

Results reveal how discoveries may be hidden in scientific “blind spots”

Cells need to repair damaged DNA in our genes to prevent the development of cancer and other diseases. Our cells therefore activate and send “repair-proteins”...

Im Focus: Dresdner scientists print tomorrow’s world

The Fraunhofer IWS Dresden and Technische Universität Dresden inaugurated their jointly operated Center for Additive Manufacturing Dresden (AMCD) with a festive ceremony on February 7, 2017. Scientists from various disciplines perform research on materials, additive manufacturing processes and innovative technologies, which build up components in a layer by layer process. This technology opens up new horizons for component design and combinations of functions. For example during fabrication, electrical conductors and sensors are already able to be additively manufactured into components. They provide information about stress conditions of a product during operation.

The 3D-printing technology, or additive manufacturing as it is often called, has long made the step out of scientific research laboratories into industrial...

Im Focus: Mimicking nature's cellular architectures via 3-D printing

Research offers new level of control over the structure of 3-D printed materials

Nature does amazing things with limited design materials. Grass, for example, can support its own weight, resist strong wind loads, and recover after being...

Im Focus: Three Magnetic States for Each Hole

Nanometer-scale magnetic perforated grids could create new possibilities for computing. Together with international colleagues, scientists from the Helmholtz Zentrum Dresden-Rossendorf (HZDR) have shown how a cobalt grid can be reliably programmed at room temperature. In addition they discovered that for every hole ("antidot") three magnetic states can be configured. The results have been published in the journal "Scientific Reports".

Physicist Dr. Rantej Bali from the HZDR, together with scientists from Singapore and Australia, designed a special grid structure in a thin layer of cobalt in...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Booth and panel discussion – The Lindau Nobel Laureate Meetings at the AAAS 2017 Annual Meeting

13.02.2017 | Event News

Complex Loading versus Hidden Reserves

10.02.2017 | Event News

International Conference on Crystal Growth in Freiburg

09.02.2017 | Event News

 
Latest News

Stingless bees have their nests protected by soldiers

24.02.2017 | Life Sciences

New risk factors for anxiety disorders

24.02.2017 | Life Sciences

MWC 2017: 5G Capital Berlin

24.02.2017 | Trade Fair News

VideoLinks
B2B-VideoLinks
More VideoLinks >>>