Micro-computed tomography assessment of skeletal structure in a mucopolysaccharidosis IX mouse model
| dc.contributor.author | Vinith, Ramya | |
| dc.contributor.examiningcommittee | Nachtigal, Mark (Biochemistry and Medical Genetics) Peeler, Jason (Human Anatomy and Cell Science) | en_US |
| dc.contributor.supervisor | Triggs-Raine, Barbara (Biochemistry and Medical Genetics) | en_US |
| dc.date.accessioned | 2014-12-17T22:26:48Z | |
| dc.date.available | 2014-12-17T22:26:48Z | |
| dc.date.issued | 2014-12-17 | |
| dc.degree.discipline | Biochemistry and Medical Genetics | en_US |
| dc.degree.level | Master of Science (M.Sc.) | en_US |
| dc.description.abstract | 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. | en_US |
| dc.description.note | February 2015 | en_US |
| dc.identifier.uri | http://hdl.handle.net/1993/30122 | |
| dc.language.iso | eng | en_US |
| dc.rights | open access | en_US |
| dc.subject | Genetics | en_US |
| dc.title | Micro-computed tomography assessment of skeletal structure in a mucopolysaccharidosis IX mouse model | en_US |
| dc.type | master thesis | en_US |