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The mammalian target of rapamycin or mTOR protein was discovered in 1994 due to its direct interaction with rapamycin. The protein gets its name from a yeast homolog called TOR. The mTOR protein complex in mammalian cells plays a major role in balancing anabolic processes such as the synthesis of proteins, lipids, and nucleotides and catabolic processes, such as autophagy in response to environmental cues, such as availability of nutrients and growth factors.
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Related Experiment Video

Updated: May 10, 2026

Utilizing 18F-FDG PET/CT Imaging and Quantitative Histology to Measure Dynamic Changes in the Glucose Metabolism in Mouse Models of Lung Cancer

Utilizing ¹⁸F-FDG PET/CT Imaging and Quantitative Histology to Measure Dynamic Changes in the Glucose Metabolism in Mouse Models of Lung Cancer

Published on: July 21, 2018

mTOR Inhibitors in Tuberous Sclerosis Complex.

Paolo Curatolo¹, Romina Moavero

¹Pediatric Neurology Unit, Neuroscience Department, Tor Vergata University Hospital, Rome, Italy.

Current Neuropharmacology

|June 5, 2013

Summary

This summary is machine-generated.

Tuberous sclerosis complex (TSC) is a genetic disorder caused by TSC1/TSC2 gene mutations, leading to mTOR pathway overactivation. mTOR inhibitors like everolimus show promise for treating TSC-associated tumors and other conditions.

Keywords:

Angiomyolipoma epilepsy.everolimus mTOR inhibition subependymal giant cell astrocytoma tuberous sclerosis complex

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Published on: July 21, 2018

Area of Science:

Genetics
Oncology
Pharmacology

Background:

Tuberous sclerosis complex (TSC) is a genetic disorder characterized by hamartomas and neurodevelopmental issues.
Mutations in TSC1 and TSC2 genes lead to hyperactivation of the mammalian target of rapamycin (mTOR) pathway.
This pathway dysregulation causes cellular abnormalities in multiple organ systems.

Purpose of the Study:

To discuss the role of the mTOR pathway in TSC pathogenesis.
To review the clinical evidence for mTOR inhibitors in TSC treatment.
To examine the pharmacokinetics, pharmacodynamics, efficacy, and tolerability of these agents.

Main Methods:

Review of existing clinical evidence and ongoing trials for mTOR inhibitors in TSC.
Analysis of pharmacokinetic and pharmacodynamic data.
Evaluation of clinical efficacy and safety profiles.

Main Results:

Everolimus is approved for TSC-associated subependymal giant-cell astrocytomas (SEGAs).
mTOR inhibitors demonstrate efficacy in treating SEGAs, renal angiomyolipomas, skin lesions, and epilepsy in TSC patients.
Ongoing trials are expected to further solidify the role of mTOR inhibitors.

Conclusions:

The mTOR pathway is a key therapeutic target in Tuberous Sclerosis Complex.
mTOR inhibitors represent a targeted treatment approach for various TSC manifestations.
Further research and clinical trials will continue to define the optimal use of these agents in TSC management.