Tuberous sclerosis—A model for tumour growth

Dodd, Kayleigh M. and Dunlop, Elaine A. ORCID: https://orcid.org/0000-0002-9209-7561 2016. Tuberous sclerosis—A model for tumour growth. Seminars in Cell and Developmental Biology 52 , pp. 3-11. 10.1016/j.semcdb.2016.01.025

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Abstract

Tuberous sclerosis complex (TSC) is a rare genetic disorder where patients develop benign tumours in several organ systems. Central to TSC pathology is hyper-activation of the mammalian target of rapamycin complex 1 (mTORC1) signalling pathway, which is a key controller of cell growth. As a result, TSC model systems are a valuable tool for examining mTORC1-driven cellular processes. The immunosuppressant, rapamycin, is a specific inhibitor of mTORC1 and has shown promise as a therapeutic agent in TSC as well as in malignancy. This review will focus on the cellular processes controlled by mTORC1 and how TSC-deficient cell lines and mouse models have broadened our understanding of the mTORC1 signalling network. It will also discuss how our knowledge of TSC signalling can help us understand sporadic conditions where mTORC1 activity is implicated in disease onset or progression, and the possibility of using rapamycin to treat sporadic disease.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	R Medicine > R Medicine (General)
Additional Information:	Available online 24 January 2016
Publisher:	Elsevier
ISSN:	1084-9521
Date of Acceptance:	19 January 2016
Last Modified:	01 Nov 2022 09:31
URI:	https://orca.cardiff.ac.uk/id/eprint/88236

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