Micro-computed tomography assessment of skeletal structure in a mucopolysaccharidosis IX mouse model
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Mucopolysaccharidosis (MPS) IX is a lysosomal storage disorder caused by a deficiency of hyaluronidase 1 (HYAL1). With few patients described, to extend our understanding of the skeletal phenotype in MPS IX, we performed micro-computed tomography on HYAL1 knockout (Hyal1-/-) and control mice at 6 months and 1 year of age. Images were examined for changes in the bone shape, microarchitecture, and density. No abnormalities in the shape of the bones of Hyal1-/- mice were detected. However, images of the distal femur of the knee joint showed abnormal periosteal bone in male Hyal1-/- mice. This was also complemented by a significant increase in the periosteal perimeter and periosteal volume. The density of the trabecular and cortical bone did not differ significantly between the two groups. Periosteal bone formation is a pathology shared with other MPSs and indicates that this model may be valuable in understanding the skeletal manifestations of all MPSs.