NGFN-PLUS
GMC – Dysmorphology Screen
Coordinator: | Prof. Martin Hrabé de Angelis | |
Institution: | Institut für Experimentelle Genetik, Helmholtz Zentrum München | |
Homepage: | www.mouseclinic.de |
With an incidence of 20% in the adult population and a higher prevalence in women and in older age groups, human musculoskeletal diseases (rheumatoid arthritis, osteoarthritis, osteoporosis, spinal disorders and major limb traumas) represent a major cause of physical disabilities in Canada, US and Europe (World Health Report 2001). A direct consequence is a huge burden corresponding to direct and indirect long-term disability and morbidity costs. Studies of mutant mice have led to a dramatic increase in the understanding of bone biology and have in many cases been essential for the discovery and understanding of bone-related human diseases. The aim of the Dysmorphology, Bone and Cartilage Screen of the German Mouse Clinic (GMC) is the identification and characterization of mouse models for bone-related human diseases such as osteoporosis, osteoarthritis, osteogenesis imperfecta, scoliosis and limb defects. In a new mouse model Aga2 for Osteogenesis imperfecta (OI) we were able to show for the first time that the Aga2 mutation in type I collagen directly causes pathological changes in heart and lung tissue that are bone-independent and are the primary cause of death in affected Aga2 severly mutants. The findings were already confirmed in human OI patients (Thiele et al., Hum Mol Genet., 2012). In the Prdm5 mutant mouse line we were able to show for the first time that Prdm5 is highly expressed in developing bones thereby controlling both Collagen I transcription and fibrillogenesis (Galli et al., PLoS Genet., 2012). A delayed ossification involving a pronounced impairment in the assembly of fibrillar collagens leads to a decrease in BMD.
The Dysmorphology, Bone and Cartilage Screen of the German Mouse Clinic (GMC)
The aim of the Dysmorphology, Bone and Cartilage Screen of the German Mouse Clinic (GMC) is the identification and characterization of mouse models for bone-related human diseases like osteoporosis, osteoarthritis, osteogenesis imperfecta, scoliosis or limb defects. We have implemented an experimental set-up utilizing e.g. DEXA (dual energy X-ray absorption), X-ray imaging, micro-computed tomography (µCT, see figure) and peripheral quantitative computed tomography (pQCT), markers of bone metabolism and hormonal regulation.
Further Coordinators:
The Dysmorphology, Bone and Cartilage Screen of the German Mouse Clinic (GMC)
The aim of the Dysmorphology, Bone and Cartilage Screen of the German Mouse Clinic (GMC) is the identification and characterization of mouse models for bone-related human diseases like osteoporosis, osteoarthritis, osteogenesis imperfecta, scoliosis or limb defects. We have implemented an experimental set-up utilizing e.g. DEXA (dual energy X-ray absorption), X-ray imaging, micro-computed tomography (µCT, see figure) and peripheral quantitative computed tomography (pQCT), markers of bone metabolism and hormonal regulation.
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