View the PDF of this article at: https://www.the-jci.org/press/18580.pdf

Researchers closer to understanding tuberous sclerosis

David Kwiatkowski and fellow researchers at Harvard Medical School have new evidence that may help explain how two genes that are mutated in patients with tuberous sclerosis complex (TSC), a genetic disorder that produces widespread benign tumors in the brain, skin, lungs, and kidneys, contribute to regulating cell growth and organ size.

TSC is caused by mutations in either of two classic tumor suppressor genes, TSC1 and TSC2, both of which interact with the insulin receptor PI3K-Akt-S6k- and mTOR signaling pathways that are known to be widely involved in human cancer. In this report, the authors demonstrate that TSC2-/- mouse embryo fibroblasts display dysregulated levels of phosphorylation of key components of these pathways, which may account for the lack of Akt activation in TSC2-/- cells. The report confirms and extends the current model of TSC2 function in cell growth regulation. The study may also explain why the progression of TSC-associated tumors to malignancy is rare.

TITLE: Loss of Tsc1/Tsc2 activates mTOR and disrupts PI3K-Akt signaling through downregulation of PDGFR

AUTHOR CONTACT:
David J. Kwiatkowski
Genetics Laboratory, Boston, Massachusetts, USA.
Phone: (617) 278-0384
Fax: (617) 734-2248
Email: dk@rics.bwh.harvard.edu

View the PDF of this article at: https://www.the-jci.org/press/17222.pdf

Infection gives Toll-like receptors something to talk about

The lining of blood vessels, known as the vascular endothelium, comprises multifunctional cells that play important roles in maintaining blood pressure, clotting, the imm
'"/>

Contact: Brooke Grindlinger
science_editor@the-jci.org
212-342-9006
Journal of Clinical Investigation
15-Oct-2003