NEUROBIOLOGY New understanding of the brain lesions and seizures in Tuberous Sclerosis Complex
Tuberous Sclerosis Complex (TSC) is a genetic disorder that causes benign tumors (called tubers) to form in all of the major organ systems, including the heart, kidney, and brain. Tubers in the cortex area of the brain are associated with epileptic seizures, and it is estimated that 90% of TSC patients suffer from seizures at some point in their lifetime. Although the genetic causes of TSC have been identified, the mechanisms that result in cortex tuber formation and seizures are not well understood, in part because existing animal models of the disease do not recapitulate these phenotypes.
In new research, Anglique Bordey and colleagues, at Yale University School of Medicine in New Haven, Connecticut, utilized an innovative strategy to delete one of the causative genes (Tsc1) in mice in selected neuronal populations during embryonic development. The resulting mice developed tuber-like cortical lesions and were more susceptible to seizures. The researchers believe that their findings are the first to demonstrate that deletion of two copies of Tsc1 is required for the generation of cortical lesions, and they are hopeful that this model will allow further investigation of the pathogenesis of TSC.
TITLE: Single-cell Tsc1 knockout during corticogenesis generates tuber-like lesions and reduces seizure threshold in mice.
Yale University School of Medicine, New Haven, CT, USA
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View this article at: http://www.jci.org/articles/view/44909?key=d7aeab152f2f21067bcb
|Contact: Kathryn Claiborn|
Journal of Clinical Investigation