Bone Abstracts

Optineurin (OPTN) is a protein encoded by the OPTN gene. This protein is involved in several cellular mechanisms such as autophagy, NF-κB signaling, cellular morphogenesis, membrane and vesicle trafficking, and transcription activation. Mutations in OPTN have been described in glaucoma, amyotrophic lateral sclerosis and other neurological diseases. More recently, a polymorphism in this gene was also identified by a genome wide association study to be ass...

Background: Pycnodysostosis (PDO) is a rare autosomal recessive high bone mass disorder caused by absence of active cathepsin K, which is a lysosomal cysteine protease that plays an important role in degrading the organic matrix of bones. In spite of open fontanelles, raised intracranial pressure has been reported in children with PDO.Presenting problem: We describe a 13-year-old boy with PDO who developed raised intracranial pressure (ICP) which led to ...

The osteoclast-associated receptor (OSCAR), primarily described as a co-stimulatory regulator of osteoclast differentiation, represents a novel link between bone metabolism and vascular biology. Previously, we identified OSCAR on endothelial cells responding to the proatherogenic factor oxidized low density lipoprotein (oxLDL). Additionally, OSCAR expression was increased in the aorta of atherogenic apoE-knock-out (apoE-KO) mice, where it was further induced by feeding a high-...

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Epigenetic mechanisms regulating osteoblast differentiation are still inadequately described. In a genome wide transcriptional profiling of MC3T3-E1 osteoblastic cell line, we identified RCOR2 as a significantly upregulated gene during a differentiation time-course from proliferative to mature osteoblasts. Similar expression profile of RCOR2 was found in mouse calvarial osteoblasts. RCOR2 belongs to CoREST/RCOR family of proteins that regulate action of lysine-specific histone...

Objective: To assess the effect of mechanical loading in anorexia nervosa (AN) in vivo, by comparing bone geometry and microarchitecture in weight bearing versus non-weight bearing bone.Subjects and methods: A total of 26 female patients with AN, and 26 female controls matched on age and height were included. Bone geometry, volumetric bone mineral density (vBMD) and microarchitecture were assessed using HR-pQCT (Scanco Medical, Brütisellen,...

Background: The clinical presentation and the clinical phenotypic characterization and the natural history of Fibrodysplasia Ossificans Progressiva (FOP) is diverse and the natural history of the disease is to certain extent different from one patient to another.Methods: In a series of eleven patients age range from 0 to 16 years (eight girls and three boys), variable clinical presentations were the landmark of these patients. At birth, all our patients ...

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Analysis of osteocyte function often uses promoter elements of osteocyte-specific genes i.e. SOST or Dentin-matrix-protein 1 (Dmp1) to overexpress genes or the Cre-recombinase for conditional deletion studies. However, evidence suggests that these promoters may not be osteocyte-specific, which would be critical for subsequent data interpretation. To investigate the selectivity of supposedly osteocyte-specific in vivo models, we crossed the 8kb-Dmp1-Cre mice (i) with A...

Introduction: FGF-21 is a protein that is produced by the liver and adipocytes. In patients with anorexia nervosa (AN), it could be involved in a complex adaptive response to starvation. In addition, this newly discovered protein could play pathogenic role in trabecular skeletal homeostasis. The aim of our work was to evaluate the concentrations of FGF-21 and bone metabolism in patients with AN.Methods: Thirty seven female patients (aged 14.76±3.99 ...