Effect of C-molecule on the humerus properties in a murine model of severe osteogenesis imperfecta

Details

Supervisors

Behets Wydemans, Catherine ; Chretien, Antoine ; André, Grégoire

Faculty

Faculté des sciences de la motricité

Degree label

Master [60] en kinésithérapie et réadaptation

Abstract

Osteogenesis imperfecta is a rare genetic disease of connective tissue caused by a mutation of the collagen-type I gene. Its main manifestations include bone fragility, reduction of bone mass, deformities, bluish sclera, dentinogenesis imperfecta, ligament and skin hyperlaxity, or hearing disorders. Current treatments focus on symptom relief and improving quality of life through physiotherapy, surgery, and medication. Bisphosphonates are commonly used, despite their side effects. This study aims to analyze the effect of Substance C on the humeral bone of homozygous oim mice, a validated model of severe OI. Mice received Substance C in their drinking water from week 5 to week 17 at three different doses. Fractures were counted, and humeri were analyzed via computed tomography and mechanical testing. Results show a significant reduction in fractures in the treated group, although some parameters remain below normal. In conclusion, Substance C reduces fractures, but mechanical and density parameters remain impaired. Increasing bone mineral density appears more beneficial than increasing bone volume.