TSC1/2 Complex and Tuberous Sclerosis

Devin Gibbs

Tuberous Sclerosis Causes Hamartomas

Mutations in TSC1/2 Cause Tuberous Sclerosis

TSC1/2 Mediates Cell Growth

TSC1/2 Mediates Cell Proliferation

TSC1/2 Integrates Growth and Energy Signals

A Diverse Array of Mutations can Cause Tuberous Sclerosis

TSC1/2 Knockout Results in Cell Growth and Neuronal Disorganization

TSC1/TSC2 Knockout Increases mTOR Activation

mTOR Inhibitors Are Promising Therapies

mTOR

FKBP

Rapamycin

Summary

• The TSC1/2 complex acts as a tumor suppressor to monitor growth and energy signals and inhibit cell cycle progression through inhibiting mTOR and β-catenin.

• Loss of function mutations in TSC1 and/or TSC2 lead to constitutive activation of mTOR and upregulation of β-catenin.

• mTOR inhibitors show promise in treating TSC.

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