MECP2 Insufficiency Attenuates RUNX2-Dependent Osteoblast Differentiation via miR-126-3p/DKK1-Mediated Canonical Wnt Signaling Inhibition in Rett Syndrome.

ABSTRACT: Rett syndrome (RTT) is a rare neurodevelopmental disorder caused by loss-of-function mutations in the gene encoding methyl-CpG-binding protein 2 (MECP2) that is located on the X chromosome. Affected individuals also exhibit a variety of non-neurological symptoms such as kyphoscoliosis and osteoporosis. Thus, MECP2 may play a functional role in bone remodeling and osteoblast differentiation. This study aimed to clarify the molecular mechanisms underlying the deregulation of bone remodeling in RTT. Human deciduous tooth-derived mesenchymal stem cells that exhibit osteoblast plasticity were used as a cellular model of RTT. Using a small interfering RNA-mediated MECP2 (MECP2-siR) knockdown system, we quantitatively analyzed the RUNX2-dependent and canonical Wnt signaling pathways during osteob

SUBMITTER: Dong S 

PROVIDER: S-EPMC12908107 | biostudies-literature | 2026 Feb

REPOSITORIES: biostudies-literature