Mouse Study Yields Hope Against Rett Syndrome

The rare, disabling neurological disorder predominantly affects girls

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WEDNESDAY, Feb. 1, 2006 (HealthDay News) -- By manipulating a certain gene, U.S. researchers were able to reduce symptoms of the disabling neurological disorder Rett syndrome, at least in mice.

The findings may help in the development of treatments for Rett syndrome, which occurs primarily in girls and causes symptom such as loss of speech and voluntary motor control, hand wringing, and seizures. It affects about one in every 15,000 people and is caused by a defective gene on the X chromosome.

Currently, there are therapies that can ease particular symptoms of Rett syndrome, but there's nothing that can treat it at the molecular level, the researchers said.

"This is the first time we've successfully reduced the awful symptoms of Rett syndrome using transgenic techniques," study senior author Rudolf Jaenisch of the Whitehead Institute for Biomedical Research in Cambridge, Mass., said in a prepared statement. "Once we understand the molecular mechanisms of the disease we may be able to design rational strategies that may eventually be useful for improving the condition in people."

The study, published in the Feb. 2 issue of Neuron, found that permanently switching on a neuronal gene called BDNF resulted in a drastic reduction of Rett symptoms in mice. The mice showed reduced lethargy and increased activity in the cortical neurons. They also had slightly larger brains, a longer lifespan and later disease onset compared with Rett mice that didn't have the BDNF gene permanently switched on.

The researchers said they now need to determine how much BDNF expression a mouse brain needs to achieve these results and to pinpoint exactly where the improvement is occurring.

"Knowing more about the process and about the precise areas of the brain that are affected will give us options for exploring future therapies," Jaenisch said.

More information

We Move has more about Rett syndrome.

SOURCE: Whitehead Institute, news release, Feb. 1, 2006

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