Ano5^Cys360Tyr mutation leads to bone dysfunction of gnathodiaphyseal dysplasia via disturbing Akt signaling.

ABSTRACT:

Background

Gnathodiaphyseal dysplasia (GDD) is a rare autosomal dominant genetic disease characterized by osteosclerosis of the tubular bones and cemento-osseous lesions of the mandibles. Anoctamin 5 (ANO5) is the pathogenic gene, however, the specific molecular mechanism of GDD remains unclear. Herein, a knockin (Ano5 ^KI/KI ) mouse model expressing the human mutation p.Cys360Tyr was used to investigate the role of Akt signaling in enhanced osteogenesis and decreased osteoclastogenesis in GDD.

Methods

Bone marrow-derived macrophages (BMMs) and mouse calvarial osteoblasts (mCOBs) were isolated from homozygous Ano5 ^KI/KI mice and treated with SC79, a specific Akt activator. The differentiation and F-actin ring for

SUBMITTER: Li H 

PROVIDER: S-EPMC11763220 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature