RNA-sequencing of Type II SMA Vertebral Bone reveals changes in osteoblast-osteoclast homeostasis

This work highlights the changes observed in Type II SMA bone in patients and compares it with the profiles observed in mouse models of SMA. We identify several factors, both intrinsic and extrinsic to bone, which are differentially regulated and may explain the observed low bone-mineral density problems in patients. Vertebral bone was collected from SMA Type II patient medial discard, from DMD or idiopathic scoliosis controls, and separated into the bone/bone marrow components and the cartilage components. These were extracted for RNA-sequencing.