Practical Genetics
European Journal of Human Genetics (2006) 14, 1065–1073. doi:10.1038/sj.ejhg.5201625; published online 26 July 2006
Tuberous sclerosis
John R W Yates1
1Department of Medical Genetics, University of Cambridge, Cambridge, UK
Correspondence: Professor JRW Yates, Department of Medical Genetics, Cambridge Institute for Medical Research, Wellcome Trust/MRC Building, Box 139, Addenbrooke's Hospital, Cambridge CB2 2XY, UK. Tel: +44 1223 331154; Fax: +44 1223 331206; E-mail: jrwy1@cam.ac.uk
Received 22 November 2005; Revised 29 December 2005; Accepted 5 January 2006; Published online 26 July 2006.
Abstract
Tuberous sclerosis is a serious inherited disease which poses major challenges for affected families and those caring for them. Identification of the genes causing the condition and study of their protein products has shed light on the pathogenesis of the disease and provided valuable new information about signalling pathways regulating protein synthesis and cell growth. There is now the exciting possibility of drug therapy for some of the manifestations of the disease.
Keywords:
tuberous sclerosis, hamartoma, tuberin, hamartin, mammalian target of rapamycin (mTOR)
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