Bone Abstracts

Prostate cancer (PCa) is the most common cancer type in older men and often metastasizes to bone in advanced stages. Wnt proteins are implicated in carcinogenesis and especially WNT5A has been discussed to influence the clinical outcome of various cancer types, including PCa. In addition, WNT5A stimulates osteogenic differentiation and may thus not only be involved in PCa development, but also in the formation of subsequent skeletal metastasis. Here, we determined the role of ...

Skeletal diseases are a large and diverse group of rare monogenic phenotypes and there are more than 450 unique and well-characterised chondrodysplasia phenotypes that range in severity from relatively mild to severe and lethal forms. Studying these genetically tractable chondrodysplasia phenotypes provides insight into disease pathways that may be relevant to the more common and polygenic forms of OA.Pseudoachondroplasia (PSACH) and multiple epiphyseal ...

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Many disorders cause osteosclerosis, and many exclusively affect adults. Pediatricians are likely to encounter those that are Mendelian diseases, with most still classified as ‘dysplasias’ although now understood at the gene level. Thus, there is promise for defining their molecular and biochemical pathogeneses, and for developing targeted medical treatments. Sclerosing bone dysplasias too have become the ‘turf’ of the metabolic bone disease specialist. How...

Biographical DetailsMichael P Whyte is Professor of Medicine, Pediatrics, and Genetics at the Washington University School of Medicine, a staff member of Barnes-Jewish Hospital and St. Louis Children’s Hospital, and Medical-Scientific Director at the Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children in St. Louis, Missouri, USA.<p class="abst...

Introduction: Bisphosphonate treatment in children with osteogenesis imperfecta reduces bone catabolism and relies on modelling to form new bone. An anabolic treatment, anti-sclerostin antibody (Anti-SOST Ab), is being investigated in clinical trials. We hypothesized that combined treatment may produce superior outcomes in OI.Methods: Female Col1a2 G610C mice and their wild type littermates (WT) were treated from week 5 to week 9 of life with either sali...

Background: Osteogenesis imperfecta (OI) is a heterogeneous group of inherited disorders of bone formation, resulting in low bone mass and an increased propensity to fracture. It is a variable condition with a range of clinical severity. About 90% of patients with a clinical diagnosis of OI have a mutation in the COL1A1 or COL1A2 genes, which shows an autosomal dominant pattern (AD) of inheritance. Other genes are associated with the autosomal recessive (AR) ...

Genetic skeletal diseases (GSDs) are an extremely diverse and complex group of rare genetic diseases that primarily affect the development and homeostasis of the osseous skeleton. There are more than 450 unique and well-characterised phenotypes that range in severity from relatively mild to severe and lethal forms. Although individually rare, as a group of related genetic diseases, GSDs have an overall prevalence of at least 1/4000 child. Qualitative defects in cartilage struc...

Biographical DetailsMichael D Briggs obtained his PhD at the MRC Clinical Research Centre, Harrow, studying the genetic basis of osteogenesis imperfecta. He undertook postdoctoral work at UCLA identifying the genetic basis of chondrodysplasias. In 1996 Mike moved to Manchester as an AR-UK Fellow to continue studying disease mechanisms in chondrodysplasia. In 2004 he was awarded a Wellcome...

Objectives: Young male jockeys undertake calorie restriction and high volumes of physical activity during periods of musculoskeletal growth and development. Previous research shows that jockeys have compromised bone health1–4 and display disordered eating5–7. Restricted intakes of calcium and vitamin D, together with excessive amounts of exercise, increase the risk of osteoporosis in males8. The aim of this study was to establish whet...