Searchable abstracts of presentations at key conferences on calcified tissues

ba0001pp472 | Other diseases of bone and mineral metabolism | ECTS2013

Monocytic expression of osteoclast-associated receptor is induced in atherosclerotic mice and regulated by oxidized low-density lipoprotein in vitro

Sinningen Kathrin , Rauner Martina , Al-Fakhri Nadia , Schoppet Michael , Hofbauer Lorenz

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-...

ba0005p162 | Cell biology: osteoblasts and bone formation | ECTS2016

RCOR2 is a novel regulator of osteoblast differentiation

Tarkkonen Kati , Al Majidi Rana , Valensisi Cristina , Saastamoinen Lauri , Hawkins David , Kiviranta Riku

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...

ba0005p299 | Osteoporosis: evaluation and imaging | ECTS2016

Bone geometry and microarchitecture in patients with anorexia nervosa: a possible role of mechanical loading on cortical bone structure

Frolich Jacob , Hansen Stinus , Al-Dakhiel Winkler Laura , Andresen Andreas , Hermann Anne Pernille , Stoving Rene K.

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,...

ba0005p473 | Paediatric bone disease | ECTS2016

Age of diagnosis of fibrodysplasia ossificans progressiva has a variable onset and a misleading phenotype

Al Kaissi Ali , Kenis Vladimir , Ghachem Maher Ben , Hofstatter Jochen , Grill Franz , Ganger Rudolf , Kircher Susanne

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 ...

ba0005p208 | Cell biology: Osteocytes, mechanobiology | ECTS2016

Transgene expression by Dmp1 promoter fragments occurs in various organs

Saito Hiroaki , Taipaleenmaki Hanna , Al-Jazzar Ahmed , Gasser Andreas , Javaheri Behzad , Scudamore Cheryl , Bellido Teresita , Pitsillides Andrew A , Hesse Eric

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...

ba0007p165 | (1) | ICCBH2019

Fibroblast growth factor-21 (FGF-21) – marker of mineral bone disorder

Ticha Lubica , Kovalčikova Alexandra Gaal , Čagalova Alžbeta , Šebekova Katarina , Podracka Ludmila

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 ...

ba0007oc27 | (1) | ICCBH2019

Palovarotene inhibits the development of new heterotopic ossification in fibrodysplasia ossificans progressiva (FOP)

Kaplan Frederick , Hsiao Edward C , Baujat Genevieve , Keen Richard , De Cunto Carmen , Di Rocco Maja , Brown Matthew A , Al Mukaddam Mona M , Grogan Donna R , Pignolo Robert J

Objective: FOP is a rare, severely disabling disease characterized by episodic flare-ups and accumulation of heterotopic ossification (HO) leading to restricted movement, physical disability, and early death. Data from two Phase 2 interventional studies and one natural history study (NHS) were used to evaluate whether palovarotene could reduce HO following an FOP flare-up.Methods: HO volume at the flare-up site was determined by CT at baseline and 12 wee...

ba0004lb2 | (1) | ICCBH2015

Recessive osteogenesis imperfecta caused by missense mutations in SPARC

Mendoza Roberto , Fahiminiya Somayyeh , Majewski Jacek , Consortium Care4Rare Canada , Tetreault Martine , Nadaf Javad , Kannu Peter , Sochett Etienne , Howard Andrew , Stimec Jennifer , Dupuis Lucie , Roschger Paul , Klaushofer Klaus , Palomo Telma , Ouellet Jean , Al-Jallad Hadil , Mort John , Moffatt Pierre , Boudko Sergei , Bachinger Hans-Peter , Rauch Frank

Objectives: We sought to identify the disease-causing mutations in two unrelated girls with a clinical diagnosis of osteogenesis imperfecta type IV.Methods: Whole-exome sequencing and cellular studies in skin fibroblasts were conducted.Results: We identified two homozygous variants in SPARC (NM_003118.3; c.497G>A (p.Arg166His) in individual 1; c.787G>A (p.Glu263Lys) in individual 2). Secreted protein, acidic, cyste...