Bone Abstracts

Mutations in LRP5 cause a variety of phenotypes, including high bone mass and low bone mass disorders. In patients with high bone mass, different heterozygous mutations have been described, all of them clustering in a region including the binding pocket for DKK1 and sclerostin. The pathogenic mechanism is thought to be a gain-of-function mediated by an impaired inhibition of the canonical Wnt signalling pathway, thereby leading to increased bone modelling.<p class="abstext...

Background: Epidermolysis bullosa (EB) is a rare, genetic skin disorder characterized by increased skin fragility after relatively minor trauma. It varies in severity even within the same subtype, ranging from a minor inconvenience to a severely disabling or life threatening disorder. In generalized forms, EB is a systemic disorder in which osteoporosis is a frequent manifestation.Presenting problem: While the mutations that cause EB do not have a direct...

Biographical DetailsDr Leanne M Ward is an Associate Professor of Pediatrics at the University of Ottawa where she holds a Research Chair in Pediatric Bone Health. She is the Medical Director of the Pediatric Bone Health Clinical and Research Programs at the Children’s Hospital of Eastern Ontario (CHEO) and a pediatric endocrinologist within the Division of Endocrinology and Metaboli...

Biographical DetailsBarbara M Misof is Staff Scientist at the Ludwig Boltzmann Institute of Osteology, Vienna, Austria. She completed her PhD in Physics and Postgraduate Education in Medical Physics at the University of Vienna in 2000. In 2002, she received the Herbert-Czitober-Research Award of the Austrian Society of Bone and Mineral Research. Her areas of interest are bone material pro...

Background: We have previously shown that MLO-Y4 osteocytes express a number of P2 receptors, respond to a broad range of nucleotides (e.g. UTP) by increasing intracellular calcium concentration and release ATP upon both mechanical and UTP stimulation. The aim of this study therefore is to investigate how the osteocytes release ATP and whether there is a difference in release pathway depending on the type of stimulus.Methods: ATP release was investigated...

Objective: Nephropathic cystinosis is an orphan autosomal recessive lysosomal storage disease characterized by a deficiency of cystinosin, a cysteine transporter protein, encoded by CTNS. As a consequence of the disease cystine crystals accumulate leading to tissue damage, primarily in kidney and cornea. With improved medical care, new challenges like skeletal complications are a matter of concern. Only few data are available dealing with bone development. The aim of our study...

Experimental studies suggested that both, oxidative stress and the Wnt pathway, are important factors in the regulation of bone remodeling. Thus, low antioxidant levels and elevated markers of Wnt pathway inhibitors (sclerostin) levels are associated with a reduced bone mineral density and increased risk of osteoporotic fracture. Whether oxidative stress and the Wnt pathway are related to fracture risk is poorly understood.M&M: Cross-sectional study ...

The clinical orthopaedic problem of delayed healing or non-union after complex fractures affects 5–10% of all patients, especially within the elderly population. Recently several in vitro studies showed that CD133+ cells bare angiogenic capacities and contribute to a better outcome concerning ischemia induced angiogenesis in vivo. A local administration of these specific cells to the fracture gap appears feasible as a new treatment option for biological ...

Chordomas are rare, low to intermediate grade malignant bone tumors of the axial skeleton. Current treatment options are limited to surgical procedures as chordomas are largely resistant to conventional radiation and chemotherapy. Cell lines are valuable tools to explore molecular mechanisms involved in tumorigenesis and they have a fundamental impact on the development of new anticancer agents. We established a novel chordoma cell-line, MUG-Chor1, from a recurrent morphologic...

After trauma or carious lesion dental pulp healing is difficult to predict. In addition systemic diseases like diabetes mellitus can impair the regenerative capacity. New regenerative strategies target prolyl hydroxylase (PHD) by pharmacological inhibitors to stimulate hard and soft tissue healing. PHD inhibitors such as L-mimosine (L-MIM) induce vascular endothelial growth factor (VEGF) production by promoting angiogenesis. However, it is unclear if L-MIM is a feasible tool t...