title: Genetic disorders of the LRP5-Wnt signalling pathway affecting the skeleton.
abstract: Osteoporosis is a common, increasingly prevalent and potentially debilitating condition of men and women. Genetic factors are major determinants of bone mass and the risk of fracture, but few genes have been definitively demonstrated to be involved. The identification of these factors will provide novel insights into the processes of bone formation and loss and thus the pathogenesis of osteoporosis, enabling the rational development of novel therapies. In this article, we present the extensive genetic and functional data indicating that the LRP5 gene and the Wnt signalling pathway are key players in bone formation and the risk of osteoporosis, and that LRP5 signalling is essential for normal morphology, developmental processes and bone health.
authors.affiliation: University of Oxford Institute of Musculoskeletal Sciences, Botnar Research Centre, Nuffield Orthopaedic Centre, Windmill Road, Headington, OX3 7LD, UK.
authors.forename: M Audrey
authors.initials: MA
authors.lastname: Koay
authors.forename: Matthew A
authors.initials: MA
authors.lastname: Brown
mesh_terms: D000818:Animals; D015519:Bone Density; D001842:Bone and Bones / Q000378:metabolism / Q000502:physiology*; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000378:metabolism*; D026502:LDL-Receptor Related Proteins / Q000235:genetics / Q000378:metabolism*; D060492:Low Density Lipoprotein Receptor-Related Protein-5; D008954:Models, Biological; D010024:Osteoporosis / Q000235:genetics* / Q000503:physiopathology; D011110:Polymorphism, Genetic; D015398:Signal Transduction / Q000502:physiology*; D051153:Wnt Proteins
chemical_list: D036341:Intercellular Signaling Peptides and Proteins; D026502:LDL-Receptor Related Proteins; C555482:LRP5 protein, human; D060492:Low Density Lipoprotein Receptor-Related Protein-5; D051153:Wnt Proteins