Abstract
Background: Sturge-Weber Syndrome (SWS) is a rare neurovascular disorder associated with port-wine birthmarks, glaucoma, and abnormal leptomeningeal blood vessels. It is most commonly caused by a R183Q somatic mutation in GNAQ predicted to result in impaired deactivation of the protein Gαq, and downstream pathways such as the Ras-Raf-MEK-ERK and mTOR pathways. The GNAQ mutation is reportedly enriched in endothelial cells. Methods: Using a phosphorylated-S6 (p-S6) antibody, a marker for mTOR pathway activity, we analyzed p-S6 protein expression in human brain tissue samples from SWS subjects and epilepsy controls. Results: SWS brain tissue was more likely to have leptomeningeal endothelial p-S6 antibody staining, compared with epilepsy controls, while the percentage of samples with p-S6 staining in perivascular cells and cortex were not significantly different. Conclusions: Leptomeningeal endothelial mTOR activity may contribute to abnormal endothelial cell morphology and function. This finding implicates mTOR as a potential treatment target for Sturge-Weber Syndrome.
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