Bone Abstracts

Aim: Lean and bone mass have considerably high phenotypic and genetic correlations with a shared heritability estimate ranging between 30 and 40% in adults. A genome-wide association study (GWAS) on total body lean mass and a bivariate GWAS on lean mass and BMD were ran in a cohort of children to identify genes with pleiotropic effects on muscle mass and peak bone mass attainment.Methods: Subjects are part of the Generation R study, a prospective multiet...

Fibrous dysplasia (FD) is a benign skeletal disease caused by activating mutations of Gsα. These mutations lead to formation of abnormal and mechanically unsound bone and fibrotic tissue. Clinical sequelae include deformity, fracture, and pain. Studies in bisphosphonates have shown improvement in bone pain and inconsistent effects on FD mineralization; however interpretation has been limited by a lack of controlled trials.Objecti...

: Congenital limb abnormalities represent a prevalence of 0.79/1000 of live births in Massachusetts1. A better understanding of their physiopathology could improve the management of the patients. We report on a 23 weeks female fetus affected by an isolated bilateral terminal transverse defect of the lower limbs with nubbins. Both familial history and chromosomal analyses were irrelevant. We performed a deep morphological examination of the fetus in comparison with a...

IκB Kinase β (IKKβ), a key component of NFκB signaling, plays an important role in bone disease and cancer. Genetic and pharmacological inhibition of IKKβ/NFκB signaling increase bone mass and protect against ovariectomy- and inflammation-induced bone loss. Here, we describe a previously unknown role of the IKKβ/FoxO3a axis in bone metastasis associated with breast cancer. We observed that IKKβ expression is prevalent in invasive breast ...

Cancer cell growth is dependent on the microenvironmental support. Prostate and mammary cancer (PCa and MCa) cells preferentially metastasize to bone, where they induce either an osteoblastic or osteolytic response. These opposite stromal responses suggest that different types of cancers adopt distinct strategies to hijack the bone marrow/bone stroma for their growth support. However, the molecular cues underlying these divergent responses are largely elusive.<p class="abs...

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Background: Vitamin D plays an important role in calcium and phosphate homeostasis. Circulating 25 hydroxyvitamin D [25(OH)D] is metabolised into its biologically active form 1,25-dihydroxyvitamin D [1,25-d(OH)D] by the actions of 1α hydroxylase, and into inactive 2metabolite 24,25-dihydroxyvitamin D [24,25-d(OH)D] by 24-hydroxylase. Recent studies suggest the production of 1,25-d(OH)D) from 25(OH)D is 24,25-d(OH)D dependent. Genetic mutations of CYP24A1 gene resulting in...

Abnormal tissue levels of certain trace elements such as Zinc (Zn) were reported in various types of cancer. Little is known about the role of Zn in osteosarcoma.Using confocal synchrotron radiation micro X-ray fluorescence analysis, we characterized the spatial distribution of Zn in high-grade (G3) sclerosing osteosarcoma of nine patients (4 f/5 m; 7 knee/1 humerus/1 femur) following chemotherapy and wide surgical resection. The study was done in accord...

Osteosarcoma is the most common primary bone-derived tumor. However, the pathogenic molecular mechanism(s) underpinning osteosarcoma development and metastasis remain elusive. The polycystins PC1 (polycystin-1; encoded by PKD1) and PC2 (polycystin-2) are central players in mechanotransduction, a process that can influence all steps of the invasion/metastasis cascade. Recent studies from our laboratory provided, for the first time, a direct link between mechanosensing polycysti...

Contemporary elemental imaging techniques are greatly contributing into the bone research. Synchrotron radiation induced confocal micro x-ray fluorescence technique (SR-μXRF) was employed for the analysis, being the most powerful and sufficient tool in detection and characterization of trace element distributions in bone tissue. Manganese (Mn), as a potential contributor into the mechanisms of calcium incorporation into bone tissue is in the spotlight of research. Further...