Abstract
The mammalian target of the rapamycin (mTOR) system plays multiple, important roles in the brain, regulating both morphology, such as cellular size, shape, and position, and function, such as learning, memory, and social interaction. Tuberous sclerosis complex (TSC) is a congenital disorder caused by a defective suppressor of the mTOR system, the TSC1/TSC2 complex. Almost all brain symptoms of TSC are manifestations of an excessive activity of the mTOR system. Many children with TSC are afflicted by intractable epilepsy, intellectual disability, and/or autism. In the brains of infants with TSC, a vicious cycle of epileptic encephalopathy is formed by mTOR hyperactivity, abnormal synaptic structure/function, and excessive epileptic discharges, further worsening epilepsy and intellectual/behavioral disorders. Molecular target therapy with mTOR inhibitors has recently been proved to be efficacious for epilepsy in human TSC patients, and for autism in TSC model mice, indicating the possibility for pharmacological treatment of developmental synaptic disorders.
Highlights
The mammalian target of the rapamycin system is an essential signal transduction system inherent in all mammalian cells [1] (Figure 1)
The other branches play roles as sensors of the cellular energy status and the availability of amino acids. These branches merge into a single flow at the TSC1/TSC2 complex, a negative regulator of the system that inhibits the activities of Ras homolog enriched in brain (Rheb) and mammalian target of the rapamycin (mTOR)
Recent advances in medical imaging and genetics have widened the clinical spectrum of Tuberous sclerosis complex (TSC) far beyond the classical triad of facial angiofibroma, epilepsy, and ID [28]
Summary
The mammalian target of the rapamycin (mTOR) system is an essential signal transduction system inherent in all mammalian cells [1] (Figure 1). One branch receives extracellular signals, such as insulin and insulin-like growth factors (IGFs), transmits the information via phosphatidylinositol 3-kinase (PI3K) and protein kinase B (AKT). The mTOR system regulates various cellular functions, such as growth, proliferation, metabolism, and survival/death In systemic organs, it is critically involved. In systemic organs, it is critically involved in multiple processes, including neurogenesis [14], nutrition [15], in multiple processes,. Genetic defects in factors with a white and black star cause epilepsy and ASD, respectively. Ated tumors, and for some of the TSC brain symptoms, such as epilepsy [27]
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