Animal Models of Ehlers-Danlos Syndromes: Phenotype, Pathogenesis, and Translational Potential.

ABSTRACT: The Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissues disorders mainly characterized by skin hyperextensibility, joint hypermobility and generalized tissue fragility. Currently, 14 EDS subtypes each with particular phenotypic features are recognized and are caused by genetic defects in 20 different genes. All of these genes are involved in the biosynthesis and/or fibrillogenesis of collagens at some level. Although great progress has been made in elucidating the molecular basis of different EDS subtypes, the pathogenic mechanisms underlying the observed phenotypes remain poorly understood, and consequentially, adequate treatment and management options for these conditions remain scarce. To date, several animal models, mainly mice and zebrafish, have been described w

SUBMITTER: Vroman R 

PROVIDER: S-EPMC8547655 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature