Delayed development of ossification centers in the tibia of prenatal and early postnatal MPS VII mice

Molecular Genetics and Metabolism
Zhirui JiangS Byers

Abstract

Short stature is a characteristic feature of most of the mucopolysaccharidoses, a group of inherited lysosomal storage disorders caused by a single enzyme deficiency. MPS patients present with progressive skeletal defects from an early age, including short stature due to impaired cartilage-to-bone conversion (endochondral ossification). The aim of this study was to determine which murine MPS model best reproduces the bone length reduction phenotype of human MPS and use this model to determine the earliest developmental stage when disrupted endochondral ossification first appears. Gusmps/mps mice representing severe MPS VII displayed the greatest reduction in bone elongation and were chosen for histopathological analysis. Tibial development was assessed from E12.5 to 6 months of age. Chondrocytes in the region of the future primary ossification center became hypertrophic at a similar age to normal in the MPS VII mouse fetus, but a delay in bone deposition was observed with an approximate 1 day delay in the formation of the primary ossification centre. Likewise, chondrocytes in the region of the future secondary ossification center also became hypertrophic at the same age as normal in the MPS VII early postnatal mouse. Bone depos...Continue Reading

Citations

Aug 3, 2020·Molecular Genetics and Metabolism·Ainslie Derrick-RobertsSharon Byers
Jun 23, 2021·Molecular Genetics and Metabolism·Sun H PeckLachlan J Smith
Oct 17, 2020·Current Osteoporosis Reports·Zhirui JiangLachlan J Smith

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