Bone Abstracts

A hallmark of Multiple Myeloma is skeletal colonization resulting in painful osteolytic lesions. Matrix metalloproteinase-13 (MMP-13) is a type-1 collagenase largely expressed by mesenchymal stromal cell (MSCs) in the bone tissue. In agreement, immunohistochemical staining of human myeloma biopsies demonstrated the localization of MMP-13 to the stromal compartment with expression in a subset of myeloma cells. This observation was further supported by studies showing that co-cu...

TNF receptor-associated factors (TRAFs) −6 and −3 regulate RANKL and TNF signaling in osteoclast precursors (OCPs), but they can have opposing effects, and it is not known if their functions are inter-dependent. For example, TRAF6 is required for RANKL/RANK-induced osteoclastogenesis, while TRAF3 limits both RANKL- and TNF-induced osteoclastogenesis through proteasomal degradation of NF-κB-inducing kinase; and inhibition of autophagic degradation of TRAF3 by c...

Bone fractures can be a serious and frequent problem for patients suffering from osteoporosis, metastatic bone cancer and congenital bone disorders. The promotion of new bone formation and mineralization can facilitate healing and stronger union of fractured bones. Our laboratory has identified important developmental roles of sphingomyelin phosphodiesterase 3 (SMPD3), which include the promotion of apoptosis of hypertrophic chondrocytes and mineralization of cartilage and bon...

Objectives: Several genes have been recognized to be associated with nonsurgical hypoparathyroidism. Most previous studies focused on gene mutation among paediatric hypoparathyroidism patients. Data about gene mutations in adult-onset hypoparathyroidism patients is still lacking. This study was designed to evaluate the role of gene defects in the pathogenesis of adult-onset hypoparathyroidism in China through the targeted next-generation sequencing (NGS).<p class="abstext"...

Objectives: For paediatric patients with hypoparathyroidism, genetic defects should be considered firstly. This study was to investigate the clinical features and analyse gene mutations of Chinese patients with child-onset hypoparathyroidism.Subjects and methods: We enrolled 35 paediatric patients with hypoparathyroidism at our clinical centre between 1984 and 2014. Clinical characteristics were collected and Targeted next-generation sequencing (NGS) was...

Pseudovitamin D-deficiency rickets (PDDR) is a rare autosomal recessive disorder resulting from a defect in renal 25-hydroxyvitamin D 1α-hydroxylase, which is encoded by the CYP27B1 gene. To our best knowledge, 48 mutations of the CYP27B1 gene have been identified so far. In the present study, we investigated CYP27B1 mutations in seven individuals from six separate families and identified nine different mutations: two novel missense mutations (G194R, R259L), three novel a...

The combined effect of lifestyle physical activity (PA) and sedentary behavioral practices on musculoskeletal health in growing populations is still poorly understood. Objectives: To investigate the combined influence of mechanical loading of weight-bearing PA (WBPA) and screen-based sedentary practice (SSR) on musculoskeletal profiles among 455 adolescents aged 12–19 years.Methods: Validated PA and SSR behaviour assessments w...

Introduction: Children with chronic kidney disease (CKD) who suffer from growth retardation have usually normal circulating GH but low IGF1, suggesting GH resistance. We have previously shown in growth retarded CKD rats an increase in suppressor of cytokine signaling 2 (SOCS2) levels, a key negative regulator of GH signaling. SOCS2 spontaneously mutated (HG) mice show an exaggerated body growth and increased bone mass. We investigated growth and GH receptor (GHR) signaling in ...

Introduction: Insulin sensitising agents are reported to have a diverse range of effects on bone with metformin exerting positive effects and thiazolidinenediones (TZDs) exerting negative effects. 5’AMP-activated protein kinase (AMPK) plays a critical role in cellular energy homeostasis. It is widely expressed in the body and can be activated by metformin.Objective:: We investigated the role of AMPK pathway in mediating the effects of metformin on t...

Background and objective: High-resolution magnetic resonance imaging (hrMRI) can assess trabecular bone microarchitecture but the number of image slices required for reliable assessment is unclear.Methods: MRI was performed just below the growth plate of the proximal tibia from 20 healthy controls (all female; median age 21 years (range 18–35) and 10 cases (three mals: seven females; median age 19.5 years (range 16–48) with known bone abnormali...