Something new: Possible cure for one type of Autism with fragile X syndrome (FXS)

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Hello to all,

I thought of sharing this wonderful news with everyone, I just heard this on December 30th. Best news ever and LOTS of hope for our children, please see below:

This was also feature on foxnews.com http://www.foxnews.com/video2/player06.html?122807/122807_an_autism & Americas%20Newsroom & Autism%20Breakthrough%3F & Autism%20Breakthrough%3F & Health & -1 & News & 170 & & & exp

Bangalore, December 20, 2007: Researchers from Bangalore¢s National Institute of Mental Health and Neuroscience (NIMHANS) and Massachusetts Institute of Technology¢s Picower Institute for Learning and Memory have cured key symptoms of mental retardation and autism in mice. By altering a single gene, they have significantly alleviated a wide range of abnormalities due to fragile X syndrome (FXS).

The breakthrough is important as it helps researchers develop drugs to cure autism faster.

FXS is the most common inherited cause of mental retardation and autism and scientists created a mouse in lab that had the same symptoms as humans.

The FXS symptoms include mental retardation, epilepsy, and abnormal body growth and there is no known treatment or therapy available to cure this disorder. The MIT researchers corrected FXS in mice modeling the disease. "These findings have major therapeutic implications for fragile X syndrome and autism," said study lead author Mark F. Bear, director of the Picower Institute and Picower Professor of Neuroscience at MIT.

The FXS patients have mutations in the X chromosome's FMR1 gene, which encodes the fragile X mental retardation protein, FMRP. The MIT study found that FMRP and metabotropic glutamate receptor (mGluR5) are at opposite ends of a kind of molecular seesaw. They keep each other in check, and without FMRP, mGluR5 signals run rampant. In FXS individuals, spines are more numerous, longer and more spindly than they should be. Thin spines tend to form weak connections.

The research team found that a 50 percent reduction in mGluR5 fixed multiple defects in the fragile X mice. In addition to correcting dendritic spines, reduced mGluR5 improved altered brain development and memory, restored normal body growth, and reduced seizures-many of the symptoms experienced by humans with FXS.

The work also indicates that a certain class of drugs could have the same effect. These drugs are not yet approved by the FDA, but will soon be entering into human clinical trials.

http://www.biospectrumasia.com/content/201207IND5092.asp

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