Bone Abstracts

Autosomal dominant type II osteopetrosis (ADO2) is a rare osteosclerotic disorder due to heterozygous missense mutations of CLC7 gene encoding the type 7 chloride channel. Our two labs (L’Aquila and Indianapolis) independently generated the first C57 black 6 (B6) mouse model of ADO2 by inserting the pG213R-clc7 mutation. We created pG213R-clc7 KI mice using a gene targeting approach. Homozygous mice showed lack of tooth eruption and died within ...

TSH exerts both antiresorptive and anabolic effects on bone remodeling in aged ovariectomized rats and TSH−/− mice, supported by clinical results demonstrating that low TSH level is associated with increased bone loss. To further explore the effect of TSH on bone metabolism we here introduced a rat model with removed thyroid and parathyroid glands to obtain low serum concentrations of thyroid and parathyroid hormone, calcitonin and 1,25(OH)2D<...

Besides its well known effect on longitudinal bone growth, GH plays a role in the maintenance of adult bone mass. As aging progresses GH levels decline, bone mass decreases and mesenchymal precursors show a reduced osteogenic differentiation capacity resulting in an increase in bone marrow adipocytes. We investigated the effect of GH on MSC differentiation and the possible involvement of microRNA in this process. Human MSC derived from trabecular specimens, waste material of o...

Titanium implants have been extensively used in dentistry as a replacement of absent dental elements. The biocompatibility of a material depends on cellular response in contact with a surface. The microarray technology is a tool to obtain an overview of the cell state in terms of large-scale transcriptional expression in different situations. Thus, the objective of this investigation was to evaluate the transcriptional profile of osteoblastic cells from human alveolar bone cul...

Aim: Aim of our study was to investigate the serum adiponectin, leptin, and osteoprotegerin (OPG) levels and its expressions in the adipose tissue, and their relationships with bone metabolism and in patients with severe C chronic obstructive pulmonary disease (COPD).Materials and methods: Serum leptin, adiponectin, OPG, the receptor activator of nuclear factor-kB ligand (RANKL), and bone turnover markers (osteocalcin and type 1 collagen C-telopeptide (C...

Mutations of the ALPL-gene are closely related to hypophosphatasia (HPP), an inherited disorder of bone and mineral metabolism with clinically heterogeneous symptoms. To date 278 different mutations have been described, leading to reduction or completely loss of enzymatic activity of the tissue nonspecific alkaline phosphatase (TNAP).We present the case of a 6-year-old boy with clinical features and laboratory results consistent with infantile H...

Introduction: Niemann–Pick disease (NPD) is a rare autosomal recessive lysosomal lipid storage disorder. It is caused by mutations of genes which products are involved in the metabolism of sphingolipids. Their dysfunction causes sphingomyelin to accumulate in different organs which leads to progressive multisystemic disorder. Types A and B NPD are caused by mutations in sphingomyelin phosphodiesterase-1 gene with deficiency of acid sphingomyelinase (ASM). Types C and D NP...

Vaspin (visceral adipose tissue-derived serine protease inhibitor) is a newly discovered adipokine that widely participates in diabetes mellitus, polycystic ovarian syndrome and other disorders of metabolism. However, the effect of vaspin on the regulation of osteogenesis and the mechanism responsible are still unclear. Here, we found that vaspin could attenuate the ALP activities, osteocalcin secretion and Runx2 expression in the preosteoblast cell line MC3T3-E1 in a dose-dep...

miRNAs are epigenetic regulators of gene expression, increasingly recognised as prominent regulators of bone metabolism. Following our in vitro studies of miRNAs profiles in osteoblasts we extended the research to human bone samples. Our aim was to find and functionally validate miRNAs differentially expressed in osteoporotic and osteoarthrotic bone with potential for targeting genes relevant in bone metabolism.Trabecular bone tissue samples wer...

Due to its huge socio-economic impact a better understating of osteoporotic fracture healing is crucial.Thirty-one female merino land sheep were randomly divided into four groups. (i) Untreated control-group (C, n=8); (ii) bilateral ovariectomy (OVX, n=7); (iii) OVX and calcium-deficient diet (OVXD, n=8); and (iv) OVXD and additional biweekly corticosteroid injections (OVXDS, n=8). Drill-hole defects (7.5 mm in diamete...