Bone Abstracts

MicroRNAs are important regulators of gene expression with documented role in bone metabolism and osteoporosis. Moreover, the use of miRNAs constitutes potential therapeutic targets. Our aim was to identify miRNAs differentially expressed in fractured compared to healthy bone. Additionally, we performed a miRNA profiling of primary osteoblasts to assess the origin of the differentially expressed miRNAs. Total RNA was extracted from fresh femoral neck trabecular bone from women...

Multiple Myeloma (MM) is a malignancy of Plasma Cells (PC), characterized by severe osteolytic lesions but poor 99Tc-MDP uptake in bone scans due to osteoblast inhibition. We hypothesized that high demands for membrane biosynthesis in tumour PC would enhance monocarboxylic acid anabolism and uptake, which could be exploited for treatment and molecular imaging. Here, we tested the efficacy of clinically available 11C-Acetate PET to detect myeloma and quant...

Objective: Even though recent studies have proved the presence of cancer stem cells (CSCs) in osteosarcoma (OSA), with this study, for the first time, the existence of CSCs in a rare high grade type of OSA, the telangiectatic osteogenic sarcoma (TOS), is showed.Methods: TOS sample was collected at the ‘Ortopedia Oncologica e Ricostruttiva Unit’, AOU Careggi, Florence, with informed consent approved by the local Ethical Committee. First of all, ...

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The aims of this study were to establish the prevalence of the high bone mass (HBM) phenotype in a cohort of Spanish postmenapausal women (BARCOS); to determine whether any of the HBM cases carry LRP5 or DKK1 mutations; to test the hypothesis of an inverse correlation between the number of common variant risk alleles and HBM; and to characterize the expression of osteoblast-specific and Wnt pathway genes in primary osteoblast RNA samples from two HBM cases.</...

Over the past decade, many GWAs and meta-analyses were performed to identify genes and regions involved in bone metabolism and in the osteoporotic phenotypes. Nevertheless, the majority of these GWAS results were not tested at any functional level. This study aims to find and study functional regions in the RANK and RANKL genes that encode well-established proteins in the bone remodeling equilibrium. SNPs, chosen for their location in an evolutionary conserve...

LIGHT (TNFSF14), expressed by different cells of the immune system, binds two trans-membrane receptors: HVEM and LTβR. It is over-expressed in erosive rheumatoid arthritis and lytic myeloma-bone disease and controversial data have been published on its role osteoclast (OC) formation in vitro. Here, we investigated the role of LIGHT on in vitro murine osteoclastogenesis model and bone phenotype in LIGHT−/− mice. Firstly, we showed that murin...

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...

Trabecular bone score (TBS) extracts a texture parameter from pixel grey-level variations in DXA lumbar spine images. The TBS is claimed to be a measure of trabecular structure and was validated in an in-vitro study of vertebral bodies with micro-CT1. TBS has shown the potential for fracture pre-diction in adults2. However, data are sparse regarding the reliability and usefulness of TBS3 and the method has not previously been applied i...

Osteocalcin, the neurotrophins BDNF/NGF and Oxytocin(Oxt) have pleiotropic effects on energy metabolism, bone mass, reproduction and brain functions suggesting a coordinated regulation. The carboxylated osteocalcin(Ost) acts on bone, while the uncarboxylated Ost shows hormone-like actions. NGF regulates female fertility elevating LH, Ost−/− mice show high LH in spite of decreased testosterone. BDNF/NGF-Oxt-Ost interactions was investigated by RT-PCR meas...