Bone Abstracts

Introduction: Tumor-induced osteomalacia (TIO) is a rare acquired paraneoplastic syndrome which is usually induced by mesenchymal tissue tumor with excessive secretion of FGF23. The misdiagnosis of TIO is frequently seen in clinic. Therefore, this study is aimed to describe the misdiagnosed situation of TIO, explore the possible underlying reasons for missed diagnosis and misdiagnosis through the analysis of 144 TIO patients, and improve clinicians’ awareness of TIO.<...

We found that miR-335 is reduced in SBC-5, a human lung cancer (LC) derived cell lines inducing osteoclast formation by expressing RANKL; reviving miR-335 expression in SBC-5 results in decrease of its proliferation, invasion, migration and clone formation in vitro; reviving miR-335 expression in LC model leads to reduction of bone metastasis (BM) in vivo. It was confirmed that miR-335, inhibiting the formation and activity of osteoclasts and reducing the pro...

Objective: To comparing the role of interleukin-6 (IL-6) and tumor necrosis factor alpha (TNF-α) in fat and bone communication.Methods: Male wild type (WT) mice, IL-6 knockout (IL-6−/−) mice, and tumor necrosis factor alpha (TNF-α) were fed with either standard diet (SD) or high fat diet (HFD) for 12 weeks. Bone mass and bone microstructure were evaluated by micro-CT. Gene expression related to lipid and bone metabolisms ...

Background: Cleidocranial dysplasia (CCD) is an autosomal-dominant skeletal dysplasia syndrome characterized by delayed closure of cranial sutures, remained-open fontanels, hypoplastic clavicles, abnormal dentition including retention of the primary teeth and delayed eruption of secondary dentition, and short stature. The responsible gene for CCD is RUNX2, which encodes an important transcription factor for osteoblast development and bone formation. CCD is caused by t...

Camurati-Engelmann disease (CED) is a rare autosomal dominant bone disease with transforming growth factor-β1 (TGFβ1) gene mutation. In order to expand our limited knowledge of Chinese CED patients, we reported eight Chinese families (11 patients) diagnosed with CED. The study was approved the Department of Scientific Research of Peking Union Medical College Hospital. All the patients were evaluated genetically, clinically, biochemically and radiographically...

X-linked hypophosphatemic osteomalacia (XLH) is an inherited skeletal disorder. The pathogenesis of the disease is fibroblast growth factor 23 (FGF23) induced renal phosphate wasting, hypophosphatemia and inappropriate lower 1, 25-dihydroxy-vitamin D3 concentration, which lead to impaired bone mineralization. There are only a few studies focus on phenotype of XLH patients in adulthood. Therefore, this cross-sectional study systematically described anthropometric, cl...

Chronic stress and depression are associated with alterations in the hypothalamic-pituitary-adrenal signalling cascade and considered a risk factor for bone loss and fractures. However, the mechanisms underlying the association between stress and poor bone health are unclear. Utilising a transgenic (tg) mouse model in which glucocorticoid signalling is selectively disrupted in mature osteoblasts and osteocytes (HSD2OB-tg mice), the current study examines the impact ...

Osteoblasts produce protein-crosslinking enzymes, transglutaminase 2 (TG2) and factor XIIIA (FXIIIA), which regulate fibronectin matrix stabilization and osteoblast differentiation in vitro. To examine if they are important in bone remodeling and in maintenance of bone quality and mass in vivo, we performed skeletal phenotyping of Tgm2−/− and F13a1−/− mice and generated a double-null Tgm2</em...

Background: Autocrine and paracrine Wnt signaling operates in stem cell populations and regulates mesenchymal lineage specification. In Wnt producing cells, Wntless (GPR177) supports the transport of Wnt from the trans-Golgi network (TGN) to the cell surface in vesicles, from which Wnt is then released. The retromer complex (VPS35) interacts with Wntless and retrieves Wntless from endosomes back to TGN, thereby maintaining the normal levels of Wntless protein. V-ATPases-driven...

Background: The activation of Wnt/β-catenin signaling promotes cellular senescence and induces matrix metalloproteinases (MMPs) expression in intervertebral disc (IVD). However, little is known about the effects of hyperbaric oxygen (HBO) on the Wnt/β-catenin signaling and MMPs expression in degenerated human IVDs.Materials and methods: Nucleus pulposus cells (NPCs) were separated from the degenerated disc nucleus tissue by performing sequentia...