Bone Abstracts

Chronic inflammatory diseases are characterized by a bone destruction mediated by an increased osteoclast (OCL) activity. OCLs are phagocytic cells arising from the myeloid lineage. Indeed, OCLs derive from monocytes (MN-OCLs) and, in an inflammatory context, they also derive from dendritic cells (DC-OCLs). Despite this origin, their role in the immune responses is still unclear. OCLs in steady state have been reported to act as antigen-presenting cells that activate CD8+...

Chronic inflammatory diseases are characterized by a bone destruction mediated by an increased osteoclast (OCL) activity. OCLs are phagocytic cells arising from the myeloid lineage. Indeed, OCLs derive from monocytes (MN-OCLs) and, in an inflammatory context, they also derive from dendritic cells (DC-OCLs). Despite this origin, their role in the immune responses is still unclear. OCLs in steady state have been reported to act as antigen-presenting cells that activate CD8+ regu...

Objectives: Limited data exist on growth parameters in children with hypophosphatasia (HPP), a rare metabolic disease characterized by impaired bone mineralization. We aimed to describe growth characteristics in untreated children with HPP enrolled in the Global HPP Patient Registry.Methods: Children (<18 years old) with a diagnosis of HPP who were not receiving enzyme replacement therapy with asfotase alfa at the time of evaluation were identified f...

Bone remodelling is maintained by a balanced activity of osteoclasts and osteoblasts. Alterations in this cross-talk result in bone pathological conditions. High bone mass defines a complex and heterogenous genetic condition characterized by increased bone density. In particular, osteopetrosis is a genetic condition of high bone mass caused by impairment in osteoclast generation or function. Molecular analysis of human osteopetrosis has allowed the identification of novel gene...

Biographical DetailsAnna Villa is Chief of the Human Genome Unit at UOS/IRGB and is also responsible for a Research Unit at Telethon Institute for Gene Therapy (TIGET). Her group has also extensively contributed towards the molecular dissection of genetic bone disorders, focusing on autosomal recessive osteopetrosis (ARO). In particular she has identified TCIRG1 as the gene responsible fo...

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Disorders of glucose metabolism are associated with adverse skeletal effects. Hyperglycemia impairs the function of osteoblast-like cells but the mechanisms underlying glucose toxicity are poorly understood. In this study we determined the effect of elevated extracellular glucose levels on the proliferation and osteogenic differentiation of mesenchymal stromal cells (MSC).Bone marrow cells were isolated from rat long bones, plastic-adherent MSCs were enr...

Objective: Cystinosis is a rare lysosomal storage disorder caused by loss-of-function mutations of the CTNS gene, encoding for cystinosin symporter that mediates cysteine efflux from lysosome. ~95% of cystinotic patients display nephropathic Fanconi’s syndrome, short stature, osteopenia and rickets. In this study we evaluated whether the absence of cystinosin primarily affects bone remodeling activity.Methods: We analyzed bone phen...

ASARM peptide (acidic, serine- and aspartate-rich motif) and osteopontin (OPN) fragments accumulate in X-linked hypophosphatemia patients and/or in the Hyp mouse model and, when phosphorylated, potently inhibit mineralization in osteoblast cultures. To investigate this inhibition, we modeled the binding to hydroxyapatite of the human OPN-ASARM peptide (DDSHQSDESHHSDESDEL) using RosettaSurface computational simulations. Peptide binding to hydroxyapatite atomic planes constructe...

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