Kindlin-3 mutation in mesenchymal stem cells results in enhanced chondrogenesis.

ABSTRACT: Identifying patient mutations driving skeletal development disorders has driven our understanding of bone development. Integrin adhesion deficiency disease is caused by a Kindlin-3 (fermitin family member 3) mutation, and its inactivation results in bleeding disorders and osteopenia. In this study, we uncover a role for Kindlin-3 in the differentiation of bone marrow mesenchymal stem cells (BMSCs) down the chondrogenic lineage. Kindlin-3 expression increased with chondrogenic differentiation, similar to RUNX2. BMSCs isolated from a Kindlin-3 deficient patient expressed chondrocyte markers, including SOX9, under basal conditions, which were further enhanced with chondrogenic differentiation. Rescue of integrin activation by a constitutively activated β₃ integrin construct increas

SUBMITTER: Kerr BA 

PROVIDER: S-EPMC7874523 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature