Mechanistic Target of Rapamycin Pathway in Epileptic Disorders
Journal of Korean Neurosurgical Society
; : 272-287, 2019.
Article
在 En
| WPRIM
| ID: wpr-765353
Responsible library:
WPRO
ABSTRACT
The mechanistic target of rapamycin (mTOR) pathway coordinates the metabolic activity of eukaryotic cells through environmental signals, including nutrients, energy, growth factors, and oxygen. In the nervous system, the mTOR pathway regulates fundamental biological processes associated with neural development and neurodegeneration. Intriguingly, genes that constitute the mTOR pathway have been found to be germline and somatic mutation from patients with various epileptic disorders. Hyperactivation of the mTOR pathway due to said mutations has garnered increasing attention as culprits of these conditions somatic mutations, in particular, in epileptic foci have recently been identified as a major genetic cause of intractable focal epilepsy, such as focal cortical dysplasia. Meanwhile, epilepsy models with aberrant activation of the mTOR pathway have helped elucidate the role of the mTOR pathway in epileptogenesis, and evidence from epilepsy models of human mutations recapitulating the features of epileptic patients has indicated that mTOR inhibitors may be of use in treating epilepsy associated with mutations in mTOR pathway genes. Here, we review recent advances in the molecular and genetic understanding of mTOR signaling in epileptic disorders. In particular, we focus on the development of and limitations to therapies targeting the mTOR pathway to treat epileptic seizures. We also discuss future perspectives on mTOR inhibition therapies and special diagnostic methods for intractable epilepsies caused by brain somatic mutations.
Key words
全文:
1
索引:
WPRIM
主要主题:
Oxygen
/
Biological Phenomena
/
Brain
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Epilepsies, Partial
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Sirolimus
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Intercellular Signaling Peptides and Proteins
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Epilepsy
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Eukaryotic Cells
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Malformations of Cortical Development
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Drug Resistant Epilepsy
研究类型:
Prognostic_studies
限制:
Humans
语言:
En
期刊:
Journal of Korean Neurosurgical Society
年:
2019
类型:
Article