Bone Abstracts

Objectives: ADO2 is a genetic bone disease induced by dominant negative mutations of the proton/chloride antiporter ClC7 encoded by the CLCN7 gene. In osteoclasts, ClC7 is crucial for lysosome function and resorption lacuna acidification. However, Clcn7 is expressed in several cell types in various organs, including brain, lungs, kidneys and spleen. Therefore, we asked whether Clcn7 mutations could affect other tissues beyond the bone.<p class="a...

Osteoclasts are giant multinucleated skeletal cells of hematopoietic origin primarily responsible for bone resorption. Their functional impairment disturbs bone homeostasis and, to a variable extent, a number of other processes, such as growth, hematopoiesis and immune function. The accumulation of bone tissue owing to failure in bone resorption results in increased bone density, which is the hallmark of osteopetrosis (OP), a heterogeneous group of monogenic disorders with aut...

Background: Inherited forms of rickets are metabolic bone diseases developing as a result of inadequate mineralization of a growing bone due to disruption of calcium, phosphorus and/or vitamin D metabolism. Diverse phenotypic presentation and aetiology of these disorders pose difficulties for the diagnosis and management.Objective and hypotheses: The aim of this study was to perform molecular diagnostics and clinically characterize 137 patients with here...

Objectives: Vitamin D intake at a dose 400 IU/d is recommended for breastfed infants and is considered as sufficient. Vitamin D status is connected with bone mass and fat mass. We aimed to assess, if 400 IU/d has the same efficiency and impact on body composition in infants with different vitamin D status at birth (<20 ng/ml vs ≧20 ng/ml).Methods: 148 breastfed infants were supplemented with 400 IU/d of cholecalciferol up to 6 months of age. S...

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Emerging evidence suggests that miRNAs (miR) can modulate a complex gene network in a cell-intrinsic and non-cell autonomous manner. We previously identified by transcriptomic analysis miR-192 to be heavily downregulated in different highly metastatic subpopulations (HMS) isolated from bone metastases in a lung cancer mice model, but its mechanistic contribution to the prometastatic activity remains unknown.To delineate the pleiotropic functions elicited...

Context: Variations in sex hormones influence bone health in men. Aging in men is associated with a decrease in testosterone (T) levels.Aims: To examine the relationship between T levels and changes in bone health status as measured by quantitative ultrasound (QUS) at the phalanges and the os calcis and by peripheral bone mineral density (pBMD) at the phalanges in healthy elderly Spanish men.Methods and material: We examined 162 me...

Introduction: Gaucher disease (GD), the most prevalent glycolipid storage disease, is an autosomal recessive metabolic disorder that is caused by an inherited deficiency of the lysosomal enzyme, glycocerebrosidase. This defect leads to reduce enzyme activity, resulting in the accumulation of glucosylceramide in cells of the monocyte-macrophages linage, known as Gaucher cells. Common presenting features include anemia, thrombocytopenia, hepatosplenomegaly and bone abnormalities...

C5aR is a membrane-associated receptor for C5a, a potent immune mediator generated after complement activation. C5aR expressed in tumor infiltrating immune cells creates a favorable microenvironment for tumor progression. However, the expression of C5aR by cancer cells and its contribution to their malignant phenotype is poorly understood. Immunohistochemical analysis revealed that high levels of C5aR in human lung tumors were associated with poor survival (P=0.005) a...

In a meta-analysis by Estrada et al. (2012), 56 loci were found associated with BMD, 14 of which were also associated with osteoporotic fracture. Several of these genes belong to the Wnt signaling pathway, including two inhibitors: DKK1 and SOST.To better understand the role of these genes in BMD determination and fracture susceptibility, we aimed to explore their allelic architecture by resequencing all coding exons and flanking region...