Loss of SMN Impairs Osteoblast-Osteoclast Coupling via IGF1-Akt-OPG Axis in Spinal Muscular Atrophy.

ABSTRACT: Recent advancements in therapeutics have extended lifespan and improved neurodevelopmental outcomes in spinal muscular atrophy (SMA) patients, particularly with severe phenotypes. However, most patients fail to achieve normal motor function. Although structural bone defects and increased fracture susceptibility have been reported in both SMA patients and mouse models, the role of survival motor neuron (SMN) protein in bone homeostasis and therapeutic targets remains incompletely understood. To investigate the function of SMN in bone metabolism, a mild SMA mouse model and Smn1 conditional knockout mice in the myeloid lineage and mature osteoclasts were utilized. Bone architecture was assessed using micro-computed tomography (micro-CT), histological staining, and immunohistochemistry. RNA se

SUBMITTER: Xiang T 

PROVIDER: S-EPMC12516799 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature