Dysfunctional mechanotransduction regulates the progression of PIK3CA-driven vascular malformations.

ABSTRACT: Somatic activating mutations in PIK3CA are common drivers of vascular and lymphatic malformations. Despite common biophysical signatures of tissues susceptible to lesion formation, including compliant extracellular matrix and low rates of perfusion, lesions vary in clinical presentation from localized cystic dilatation to diffuse and infiltrative vascular dysplasia. The mechanisms driving the differences in disease severity and variability in clinical presentation and the role of the biophysical microenvironment in potentiating progression are poorly understood. Here, we investigate the role of hemodynamic forces and the biophysical microenvironment in the pathophysiology of vascular malformations, and we identify hemodynamic shear stress and defective endothelial cell mechanotransd

SUBMITTER: Aw WY 

PROVIDER: S-EPMC11370454 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature