Tuberous sclerosis complex: linking growth and energy signaling pathways with human disease

A Astrinidis, EP Henske - Oncogene, 2005 - nature.com
Oncogene, 2005nature.com
The most exciting advances in the tuberous sclerosis complex (TSC) field occurred in 1993
and 1997 with the cloning of the TSC2 and TSC1 genes, respectively, and in 2003 with the
identification of Rheb as the target of tuberin's (TSC2) GTPase activating protein (GAP)
domain. Rheb has a dual role: it activates mTOR and inactivates B-Raf. Activation of mTOR
leads to increased protein synthesis through phosphorylation of p70S6K and 4E-BP1. Upon
insulin or growth factor stimulation, tuberin is phosphorylated by several kinases, including …
Abstract
The most exciting advances in the tuberous sclerosis complex (TSC) field occurred in 1993 and 1997 with the cloning of the TSC2 and TSC1 genes, respectively, and in 2003 with the identification of Rheb as the target of tuberin's (TSC2) GTPase activating protein (GAP) domain. Rheb has a dual role: it activates mTOR and inactivates B-Raf. Activation of mTOR leads to increased protein synthesis through phosphorylation of p70S6K and 4E-BP1. Upon insulin or growth factor stimulation, tuberin is phosphorylated by several kinases, including AKT/PKB, thereby suppressing its GAP activity and activating mTOR. Phosphorylation of hamartin (TSC1) by CDK1 also negatively regulates the activity of the hamartin/tuberin complex. Despite these biochemical advances, exactly how mutations in TSC1 or TSC2 lead to the clinical manifestations of TSC is far from being understood. Two of the most unusual phenotypes in TSC are the apparent metastasis of benign cells carrying TSC1 and TSC2 mutations, resulting in pulmonary lymphangiomyomatosis, and the ability of cells with TSC1 or TSC2 mutations to differentiate into the separate components of renal angiomyolipomas (vessels, smooth muscle and fat). We will discuss how the TSC signaling pathways are affected by mutations in TSC1 or TSC2, focusing on how these mutations may lead to the renal and pulmonary manifestations of TSC.
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