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Brain Symptoms of Tuberous Sclerosis Complex: Pathogenesis and Treatment. | LitMetric

Brain Symptoms of Tuberous Sclerosis Complex: Pathogenesis and Treatment.

Int J Mol Sci

Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Bunkyo-ku, Tokyo 113-8655, Japan.

Published: June 2021

AI Article Synopsis

  • The mTOR system in the brain regulates important aspects like cell shape and functions related to learning, memory, and social interaction.
  • Tuberous sclerosis complex (TSC) is a congenital disorder linked to a malfunction of the TSC1/TSC2 complex, leading to excessive mTOR activity, which results in symptoms like epilepsy and intellectual disabilities in children.
  • Recent studies show that mTOR inhibitors may effectively treat epilepsy in TSC patients and improve autism symptoms in TSC model mice, suggesting potential for new treatments for related developmental disorders.

Article 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.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8268912PMC
http://dx.doi.org/10.3390/ijms22136677DOI Listing

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