Rapamycin suppresses seizures and neuronal hypertrophy in a mouse model of cortical dysplasia

MC Ljungberg, CN Sunnen, JN Lugo… - Disease models & …, 2009 - journals.biologists.com
MC Ljungberg, CN Sunnen, JN Lugo, AE Anderson, G D'Arcangelo
Disease models & mechanisms, 2009journals.biologists.com
Malformations of the cerebral cortex known as cortical dysplasia account for the majority of
cases of intractable childhood epilepsy. With the exception of the tuberous sclerosis
complex, the molecular basis of most types of cortical dysplasia is completely unknown.
Currently, there are no good animal models available that recapitulate key features of the
disease, such as structural cortical abnormalities and seizures, hindering progress in
understanding and treating cortical dysplasia. At the neuroanatomical level, cortical …
Summary
Malformations of the cerebral cortex known as cortical dysplasia account for the majority of cases of intractable childhood epilepsy. With the exception of the tuberous sclerosis complex, the molecular basis of most types of cortical dysplasia is completely unknown. Currently, there are no good animal models available that recapitulate key features of the disease, such as structural cortical abnormalities and seizures, hindering progress in understanding and treating cortical dysplasia. At the neuroanatomical level, cortical abnormalities may include dyslamination and the presence of abnormal cell types, such as enlarged and misoriented neurons and neuroglial cells. Recent studies in resected human brain tissue suggested that a misregulation of the PI3K (phosphoinositide 3-kinase)-Akt-mTOR (mammalian target of rapamycin) signaling pathway might be responsible for the excessive growth of dysplastic cells in this disease. Here, we characterize neuronal subset (NS)-Pten mutant mice as an animal model of cortical dysplasia. In these mice, the Pten gene, which encodes a suppressor of the PI3K pathway, was selectively disrupted in a subset of neurons by using Cre-loxP technology. Our data indicate that these mutant mice, like cortical dysplasia patients, exhibit enlarged cortical neurons with increased mTOR activity, and abnormal electroencephalographic activity with spontaneous seizures. We also demonstrate that a short-term treatment with the mTOR inhibitor rapamycin strongly suppresses the severity and the duration of the seizure activity. These findings support the possibility that this drug may be developed as a novel antiepileptic treatment for patients with cortical dysplasia and similar disorders.
journals.biologists.com