Endothelial <i>GNAQ</i> p.R183Q mutation confers hemoporfin-mediated photodynamic therapy resistance and drives pathological angiogenesis via the angiopoietin-2/TIE2/PI3K/AKT pathway.

ABSTRACT: Hemoporfin-mediated photodynamic therapy (HMME-PDT) has demonstrated significant advantages in the treatment of Port-wine stains (PWSs). However, the therapeutic efficacy of HMME-PDT remains suboptimal in a subset of patients. Somatic mosaic mutations in GNAQ (c.548G>A, p. R183Q) are frequently detected in endothelial cells (ECs) of lesions and represent a common pathogenic mechanism. In this study, we successfully established an in vitro model of PWSs by introducing the GNAQ p. R183Q mutation into HUVECs using lentiviral infection. Our results revealed that GNAQ p. R183Q mutation enhanced ECs proliferation, migration, and angiogenesis. Moreover, the mutation augmented anti-apoptotic mechanisms, thereby conferring heightened resistance to HMME-PDT-induced apopto

SUBMITTER: Liu L 

PROVIDER: S-EPMC12411732 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature