Clinical features and morphology of collagen fibrils in patients with vascular Ehlers-Danlos based on electron microscopy.

ABSTRACT: Background: Vascular-type Ehlers-Danlos syndrome (vEDS) is caused by collagen III deficit resulting from heterogeneous mutations in COL3A1, which occasionally causes sudden death due to arterial/visceral rupture. However, it is difficult to conduct basic research on the pathophysiology of vEDS. Moreover, the number of patients with vEDS is small, limiting the number of available samples. Furthermore, the symptoms of vEDS may vary among family members, even if they share the same mutation. Accordingly, many aspects of the pathology of vEDS remain unknown. Therefore, we investigated the structural abnormalities in collagen fibrils and endoplasmic reticulum (ER) stress in skin samples using electron microscopy as well as their relationship with clinical symptoms in 30 patients w

SUBMITTER: Ishikawa S 

PROVIDER: S-EPMC10466410 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature