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Virginia Researchers Make Inroads On Autism Treatment

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Experiments with lab mice have shown some success treating a severe form of autism with bone marrow transplants.
Maria Akhmerova: http://www.flickr.com/photos/12004898@N06/4642070007/
Experiments with lab mice have shown some success treating a severe form of autism with bone marrow transplants.

Virginia scientists are reporting a surprising discovery about autism. Researchers treated mice with an extreme form of the disease and were able to restore normal function and extend their lives.

Rett Syndrome is a rare and extreme form of autism in which boys die before or shortly after birth, and girls suffer serious disability.

"Interestingly, the girls are born normal, and the disease starts to appear around 6-18 months of age. So basically you have a normal girl, and suddenly you see reversal in her development," says Jonathan Kipnis, an associate professor of neuroscience at the University of Virginia, who led an intriguing study on mice.

If scientists make a genetic alteration, Kipnis says, they can produce rodents who have a disease very much like Rett: "Male mice are born, and they die about 8 weeks of age, and the female mice live almost normal lifespan, but they develop disease around 4 months of age. By a year it's a very, very severe disease."

Kipnis and his colleagues knew that the immune system could be a factor in brain function.

"For example, if we take T-lymphocytes from normal mice, we can make them stupid, or if we take stupid mice, inject them with some types of immune cells and make them smart," says Kipnis.

And a previous study had shed light on the brains of mice with this extreme form of autism. They knew that the same protein which is mutated in Rett Syndrome is needed for the growth of some types of immune cells. The immune system is easy to fix in mice, as it is also in human patients, by bone marrow transplantation. So they were able to restore normal function and extend the animals lives by performing bone marrow transplants.

"Male mice are dying around 6-10 weeks of age, and our oldest male mouse celebrated his first birthday very recently, so the results are really amazing," says Kipnis. "We never expected to get anything like that, but then when the mice were 10 weeks and they looked normal, we said 'Let's wait, 12 weeks, 14 weeks, 16 weeks, 20 weeks.' And then we realized we had something really, really serious on our hands."

Kipnis says this work raises many more questions which will have to be answered before bone marrow transplant could be tried in humans with autism, but he says this novel approach to treatment does offer reasons for hope.

His team's findings are published in the Journal Nature.

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