UCI, Brown work advances quest for novel treatments for inherited disorder

Published on October 20, 2012 at 6:56 AM · No Comments

UCI, Brown work advances quest for novel treatments for inherited disorder

UC Irvine and Brown University researchers have created a new fruit fly model of inherited epilepsy that's providing insights into the mechanisms underlying temperature-dependent seizures while establishing a platform from which to develop therapies for these disorders.

In the Oct. 10 issue of The Journal of Neuroscience, Diane O'Dowd of UCI, Robert Reenan of Brown and colleagues report their method for placing a gene mutation that causes human fever-induced seizures into drosophila fruit flies. As a result, the mutant flies experience heat-induced seizures.

This represents the first time a human genetic disease mutation has been "knocked in" to the equivalent location in the fruit fly genome. The drosophila knock-in model provides a rapid and low-cost basis for defining the neural mechanisms contributing to inherited seizure disorders.

"We can also use this genetic model of human epilepsy in fruit flies to look for new treatments for the disease," said O'Dowd, professor and chair of developmental & cell biology at UCI.

Fever-induced, or febrile, seizures are most commonly seen in children. Only about one in 100 children with febrile seizures develops epilepsy, and most outgrow them by age 5. In contrast, individuals who have the inherited disorder - termed GEFS+ - have febrile seizures that persist beyond childhood and also often develop seizures in the absence of fever.

Reenan, a biology professor at Brown, and Brown undergraduate Jeff Gilligan used a genetic-exchange research method called "homologous recombination" to insert a mutation into the gene in fruit flies that's a direct parallel of the GEFS+ mutation in the human SCN1A sodium channel gene that causes febrile seizures in people.

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