Bone Abstracts

Brain-derived neurotrophic factor (BDNF) has recently emerged as a factor able to concurrently target age related diseases as neurodegenerative disease, osteoporosis and metabolic syndrome. However the role of BDNF in the frailty syndrome associated with aging has never been investigated. The deletion of central BDNF gene in mice results in increased bone mass and in vitro experiments show that BDNF has a positive effect on bone. BDNF expression is mediated by estroge...

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...

Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary disorder characterized by isolate renal phosphate wasting, hypophosphatemia, and inappropriately normal 1,25(OH)2D3 levels. ADHR is caused by mutations in FGF23 protein that actively regulates phosphate homeostasis. In contrast to X-linked dominant hypophosphatemic rickets, ADHR shows incomplete penetrance, variable age at onset, and in rare cases resolution of the phosphate-wasting defect...

Despite mutations in SQSTM1 gene have been detected in up to 50% of patients with familial Paget’s disease of bone (PDB), their prevalence is low in sporadic PDB, likely due to the presence of additional predisposition genes. Recently, at least seven genes were associated with PDB in genome-wide-association studies, including polymorphic variation in OPTN,encoding for optineurin. In particular, a single OPTN variant (rs1561570) was highly associated with...

We previously evidenced a reduced response to i.v. pamidronate in Q15STM1 mutation carriers (Q15STM1+) with Paget’s disease of bone (PDB). In order to confirm and extend this observation, we investigated the effect of Q15STM1 mutation and polymorphisms in three genes associated with PDB (TNFRSF11A; OPTN; TNFRSF11B) on the response to bisphosphonates. First, a retrospective study was performed in 335 patients treated wi...

Conventional Giant Cell Tumor of Bone (GCT) is an aggressive bone tumor characterized by malignant mesenchymal stromal cells, responsible for its unusually high population of multinucleated osteoclast-like giant cells. GCT could arise in bones affected by Paget’s disease of bone (GCT/PDB) with a different clinical profile regarding the age-onset of the neoplasm (30 years vs 50 years) and the skeletal localization (appendicular skeleton vs cranio-facial bones), let hyphote...

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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Paget’s disease of bone (PDB) is a common disorder of bone metabolism characterized by focal areas of excessive and rapid bone resorption and formation, leading to bone pain, deformity and fractures. Despite the well documented increase in the risk of primary bone tumors due to neoplastic degeneration of pagetic tissue, a large retrospective analysis suggested that patients with prostate cancer and PDB have delayed time to bone metastases and improved overall survival tha...

Sclerostin (SCL) and FGF23 are osteocyte-secreted factors with a major role in bone homeostasis. Despite their skeletal effects and their association with fracture risk in some studies, variations in circulating levels were also described in patients with diabetes (DM), chronic renal failure (CRF) and/or cardiovascular disease (CVD). In order to provide further insight on the relationship between these osteocyte-derived factors, osteoporosis and cardio-metabolic disorders we a...