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Elizabeth Cooney is a health reporter for the Worcester Telegram & Gazette.
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Monday, June 25, 2007

MIT researcher offers hope for syndrome that causes retardation, autism

By Carey Goldberg, Globe Staff

Blocking a key brain chemical can reverse many of the symptoms of Fragile X Syndrome -- an inherited form of mental retardation often accompanied by autism -- in mice engineered to have the disease, an on-line scientific journal reported this afternoon.

The findings raise the prospect that drugs with similar effects may someday help restore brain function in human children with the syndrome, and possibly with some forms of autism as well, said Susumu Tonegawa of MIT's Picower Institute for Learning and Memory, senior author of the paper in today's Proceedings of the National Academy of Sciences. About 100,000 Americans have Fragile X.

Mental retardation has long been thought to be permanent. But recent research increasingly suggests that even with diseases that strike after birth, the brain may be more fixable than previously believed. Earlier this year, scientists from Scotland reported that dramatic recoveries could be achieved in mice with Rett Syndrome, another genetic disease related to autism.

Tonegawa's paper says "that some of the abnormalities with mental retardation syndromes and autism aren't necessarily cemented in stone," said Eric Klann, a professor in New York University's Center for Neural Sciences, who was familiar with the paper but not involved with the research. "I think it gives some degree of hope."

The research focused on blocking an enzyme called PAK. Tonegawa's research used genetic manipulation rather than drugs, but he said that he believes drug and biotech companies are already working on developing compounds that block the same enzyme. His lab may seek access to such compounds that are aimed for other diseases, or ask a chemist to synthesize them, he said.

There are currently several drugs in development as possible treatments for people with Fragile X Syndrome, said Katie Clapp, co-founder of FRAXA Research Foundation, a locally based nonprofit that helped fund the research. Her 18-year-old son, Andy, has the syndrome. None of the compounds has reached the point that she would want Andy to try them, she said, nor are they publicly available.

"But talk to me in a couple of months," she said. "There are more drug targets coming out of research that we're funding, and some of it does suggest drugs that are already available. So sometimes I feel like I'm living a dream --- a really good one."

Posted by Karen Weintraub at 05:22 PM
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