Hamartin and tuberin modulate gene transcription via beta-catenin.
Tuberous sclerosis, neurological genetic disorder characterized by the formation of benign tumors or hamartomas in multiple organ systems, is recently getting much attention. Numerous papers describe still-not-fully-explained pathogenesis of the disease. Studies on tuberous sclerosis allowed identification of two tumor suppressor genes, TSC1 and TSC2, encoding proteins implicated in the disease: hamartin and tuberin, respectively. The importance of these proteins is confirmed by their ubiquitous character and by the fact that TSC1/TSC2 complex is involved in the regulation of the activity of mTOR, a master controller of protein translation. Thus, the meaning of hamartin and tuberin goes far beyond tuberous sclerosis. As far as the influence of the TSC1/TSC2 complex on protein translation is well described in numerous reviews, little attention is drawn to the recently discovered role of the TSC1/TSC2 complex in gene transcription via the WNT signaling pathway. The present paper focuses on recent developments documenting the role of hamartin and tuberin in the WNT pathway.
Jozwiak
Jaroslaw
J
Department of Histology and Embryology, Center for Biostructure Research, Medical University of Warsaw, ul. Chalubinkiego 5, 02-004, Warsaw, Poland. jjozwiak@atdv.com.pl
Wlodarski
Pawel
P
D000818:Animals; D001932:Brain Neoplasms / Q000378:metabolism; D006801:Humans; D015398:Signal Transduction / Q000502:physiology*; D014158:Transcription, Genetic / Q000502:physiology*; D014402:Tuberous Sclerosis / Q000235:genetics; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins / Q000378:metabolism*; D051153:Wnt Proteins / Q000378:metabolism*; D051176:beta Catenin / Q000378:metabolism*
C000624650:TSC1 protein, human; C000624653:TSC2 protein, human; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins; D051153:Wnt Proteins; D051176:beta Catenin