This research represents one of the first animal models of epilepsy that does not require toxic injections or injury and results from a single gene defect. It appears online July 18 in the Annals of Neurology and will be published in the September issue of the journal.
"What's enormously exciting about this study is the potential to employ this mouse model as a pre-clinical model for TSC-related epilepsy," says David H. Gutmann, M.D., Ph.D., the Donald O. Schnuck Family Professor of Neurology. "In addition, we disrupted a gene for TSC in one of the brain's support cells, called astrocytes, instead of in the brain's main communication cells, neurons. Our results therefore shed light on the contribution of cells other than neurons to the development of seizures and epilepsy."
Gutmann led the study in conjunction with Kelvin Yamada, M.D., associate professor of neurology and pediatrics.
TSC is a genetic disorder that affects about 50,000 Americans, more than half of whom experience frequent, debilitating epileptic seizures. TSC also causes tumors to form in various organs, including the brain. Physicians cannot cure the disease nor can they predict which individuals will experience severe symptoms.
Scientists have identified two genes responsible for TSC TSC1 and TSC2. Because affected individuals often develop brain tumors, Gutmann's team hypothesized that TSC1 may provide a clue into tumor development. Since mice that completely lack TSC1 die early in development, the researchers engineered a strain of animals that are missing the TSC1 gene in only one type of brain cell astrocytes. Surprisingly, the mice did
Contact: Gila Z. Reckess
Washington University School of Medicine