Epiphyseal growth plate architecture is unaffected by early postnatal activation of the expression of R992C collagen II mutant

Spondyloepiphyseal dysplasia (SED) exemplifies a group of heritable diseases caused by mutations in collagenous proteins of the skeletal system. Its main feature is altered skeletal growth. Pathomechanisms of SED include: changes in the stability of collagen II molecules, inability to form proper collagen fibrils, excessive intracellular retention of mutant molecules, and endoplasmic reticulum stress. The complexity of this pathomechanism presents a challenge for designing therapies for SED. Our earlier research tested whether such therapies only succeed when applied during a limited window of development.

Source: Bone - April 13, 2018 Category: Orthopaedics Authors: Jolanta Fertala, Machiko Arita, Andrzej Steplewski, William V. Arnold, Andrzej Fertala Tags: Full Length Article Source Type: research