UC San Diego study IDs experimental drug for rare neurological disease

UCSD's Alysson Muotri

Ten years ago, researchers explained how a duplication of genetic material in one section of the X chromosome triggered MECP2 duplication syndrome, a rare neurological disease characterized by seizures, autistic behavior and respiratory ailments that almost exclusively affects men. A similar disease, Rett syndrome, primarily affects women. And the only drugs available target symptoms of the disease.

Now, though, a group of researchers at UC San Diego say they were able to take a preclinical shortcut that led them straight to a drug candidate that demonstrated signs of salvaging dysfunctional cells.

Using iPS cells taken from patients with MECP2 duplication, the researchers built "mini-brains" that could be used to provide fresh insight into the way the disease works and to test new drugs. Their work on the neurons they created from stem cells allowed a screening process that led them to an HDAC inhibitor that "reversed all the MECP2 alterations in the mutant neurons, with no harm to control neurons."

The plan now is to move into clinical trials as soon as possible. Their work was published in the September 8 online issue of Molecular Psychiatry.

"This work is encouraging for several reasons," said senior author Alysson Muotri, an associate professor in the UC San Diego departments of Pediatrics and Cellular and Molecular Medicine. "First, this compound had never before been considered a therapeutic alternative for neurological disorders. Second, the speed in which we were able to do this. With mouse models, this work would likely have taken years and results would not necessarily be useful for humans."

- here's the release
- get the research abstract

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