TGFBR3 dependent mechanism of TGFB2 in smooth muscle cell differentiation and implications for TGFB2-related aortic aneurysm.

ABSTRACT:

Introduction

Pathogenic variants in canonical transforming growth factor β (TGFβ) signaling genes predispose patients to thoracic aortic aneurysm and dissection (TAAD), predominantly in aortic root. Although TAAD pathogenesis associated with TGFβ receptor defects is well characterized, distinct and redundant mechanisms of TGFβ isoforms in TAAD incidence and severity remain elusive.

Objective

Here we examined the biological role of TGFB2 in smooth muscle cell (SMC) differentiation and investigated how TGFB2 defects can lead to regional TAAD manifestations.

Methods

To characterize the role of TGFB2 in SMC differentiation and function, we employed human-induced pluripotent stem cell (hiPSC)-derived SMC differentiation, CRISPR/Cas9 gene editing, three-dimensional SMC cons

SUBMITTER: Tang Y 

PROVIDER: S-EPMC11943474 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature