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PMID: 19297407 Published · ppublish English Journal Article Research Support, N.I.H., Extramural Research Support, U.S. Gov't, Non-P.H.S. Review

Tuberous sclerosis complex, implication from a rare genetic disease to common cancer treatment.

Human molecular genetics ·Vol. 18 ·No. R1 ·2009-04-15 ·Pages R94-100

Inoki K, Guan KL

Abstract

Tuberous sclerosis complex (TSC) is a relatively rare autosomal dominant disorder characterized by widespread benign tumor formation in a variety of organs. Mutations in either TSC1 or TSC2 tumor suppressor gene are responsible for TSC. The gene products of TSC1 and TSC2, also known as hamartin and tuberin, respectively, form a physical and functional complex and inhibit the mammalian target of rapamycin complex 1 (mTORC1) signaling. The mTORC1 pathway is an evolutionarily conserved growth promoting pathway. mTORC1 plays an essential role in a wide array of cellular processes including translation, transcription, trafficking and autophagy. In this review, we will discuss recent progresses in the TSC-mTOR field and their physiological functions and alterations of this pathway in pathophysiology.

MeSH Terms
Animals Cell Physiological Phenomena Humans Rare Diseases/genetics Signal Transduction Transcription Factors/metabolism Tuberous Sclerosis/genetics,metabolism Tuberous Sclerosis Complex 1 Protein Tuberous Sclerosis Complex 2 Protein Tumor Suppressor Proteins/genetics
Chemicals
CRTC1 protein, human TSC1 protein, human TSC2 protein, human Transcription Factors Tuberous Sclerosis Complex 1 Protein Tuberous Sclerosis Complex 2 Protein Tumor Suppressor Proteins
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Inoki Ken
Department of Molecular and Integrative Physiology, Life Sciences Institute, University of Michigan, Ann Arbor, MI 48109, USA. inokik@umich.edu
Guan Kun-Liang
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Article Info
Journal
Human molecular genetics
Abbr.
Hum Mol Genet
ISSN
1460-2083
DOI
10.1093/hmg/ddp032
Email
inokik@umich.edu
Published
2009-04-15
Pages
R94-100
Language
English
Region
England
NLM ID
9208958
PMCID
PMC2657945
Subset
IM
External Links
PubMed source DOI: 10.1093/hmg/ddp032 PMC Full Text View journal details
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