Kevin Ess
Assistant Professor of Neurology
Last active: 2/16/2016

Tuberous sclerosis complex: a brave new world?

Ess KC
Curr Opin Neurol. 2010 23 (2): 189-93

PMID: 20087180 · PMCID: PMC2884012 · DOI:10.1097/WCO.0b013e32832c4ff5

PURPOSE OF REVIEW - Tuberous sclerosis complex (TSC) is a multiorgan genetic disease caused by mutations in the TSC1 or TSC2 genes. TSC has been recognized for many years as an important cause of severe neurological disease with patients suffering from epilepsy, developmental delay, autism, and psychiatric problems. During the last year, there have been enormous advances in basic and translational research pertaining to TSC.

RECENT FINDINGS - In this review, I discuss the basic science findings that position the TSC1 and TSC2 genes as critical regulators of the mammalian target of rapamycin kinase within mammalian target of rapamycin complex 1. In addition, I will discuss the development of new animal models, translational data, and recent clinical trials using mammalian target of rapamycin complex 1 inhibitors such as rapamycin.

SUMMARY - The past few years have seen spectacular advances that have energized TSC-related research and challenged existing symptomatic treatments. Although it remains to be seen whether use of mammalian target of rapamycin complex 1 inhibitors will revolutionize the care of patients with TSC, the application of basic and translational research towards a specific clinical disorder emphasizes the potential and promise of molecular medicine.

MeSH Terms (9)

Animals Clinical Trials as Topic Disease Models, Animal Epilepsy Humans Signal Transduction Sirolimus Transcription Factors Tuberous Sclerosis

Connections (1)

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