One of the most common genetic causes of childhood epilepsy is a disorder called tuberous sclerosis complex (TSC), which causes brain lesions that produce severe seizures that are typically resistant to drug treatment, requiring surgery instead. Researchers from the lab of Neuroscience faculty member Helen Bateup have now discovered how TSC likely leads to seizures, and have identified possible new treatments.
Bateup is an associate professor of neuroscience and molecular & cell biology, and a Weill Neurohub Investigator. Her team’s study was published on September 23 in Nature. They used human stem cells to grow tiny balls of brain tissue called organoids, and introduced a mutation that causes TSC into some of the cells. The researchers found that the mutation caused hyperreactive astrocyte cells (a type of glial cell) to be produced, which caused inflammation that can cause seizures. Since experimental drugs already exist that can reduce astrocyte-caused inflammation, they could potentially serve as much-needed new treatments.
