Leaky blood vessels in capillary malformations

What is it about?

Sturge–Weber Syndrome causes abnormal blood vessel growth in the skin, brain, and eyes, often leading to port-wine birthmarks, seizures, and vision problems. Most cases are caused by a mutation in the GNAQ gene, which makes blood vessels “leaky.” This study showed that the GNAQ mutation increases leakiness by raising levels of a molecule called ANGPT2 and overactivating a signaling pathway called MAPK/ERK. Blocking either one helped strengthen the blood vessel barrier, and blocking both worked even better. These results identify promising targets for future treatments for Sturge–Weber Syndrome and related birthmarks.

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Photo by engin akyurt on Unsplash

Photo by engin akyurt on Unsplash

Why is it important?

This work is important because it reveals how the GNAQ mutation causes blood vessels to become leaky in Sturge–Weber Syndrome and identifies pathways that can be targeted to fix it. This is a major step toward developing the first treatment that addresses the root cause of the disease, rather than just managing symptoms.