New insights into the pathophysiology of the tuberous sclerosis complex: Crosstalk of mTOR- and hippo-YAP pathways in cell growth

Patricia E Dill; Ning Liang; Mario Pende

doi:10.1080/21675511.2015.1016701

New insights into the pathophysiology of the tuberous sclerosis complex: Crosstalk of mTOR- and hippo-YAP pathways in cell growth

Rare Dis. 2015 Feb 23;3(1):e1016701. doi: 10.1080/21675511.2015.1016701. eCollection 2015.

Authors

Patricia E Dill¹, Ning Liang², Mario Pende²

Affiliations

¹ Institut Necker-Enfants Malades ; Paris, France ; Inserm ; Paris, France ; Université Paris Descartes; Sorbonne Paris Cité ; Paris, France ; Department of Pediatric Neurology and Developmental Medicine; University Children's Hospital Basel ; University of Basel ; Basel, Switzerland.
² Institut Necker-Enfants Malades ; Paris, France ; Inserm ; Paris, France ; Université Paris Descartes; Sorbonne Paris Cité ; Paris, France.

Abstract

Tuberous Sclerosis Complex (TSC) is a genetic disease causing uncontrolled growth of hamartomas involving different organ systems. In the last decade, dysregulation of the mTORC1 pathway was shown to be a main driver of tumor growth in TSC. Recently, a new crosstalk was detected between the mTORC1 and the Hippo-YAP pathway, another major cell signaling cascade controlling cell growth and organ size. Elucidating this connection is an important step in understanding the complexity of TSC, enabling new pharmacological targets and therapeutical options.

Keywords: Hippo/YAP; Tuberous Sclerosis Complex; mTOR; pharmacology; signal transduction.