Bone Abstracts

Background and objectives: Lean mass (LM) has been positively associated with bone mineral density (BMD), but the impact of increased adiposity on bone especially in children is controversial. Several biomarkers, secreted by adipose tissue, skeletal muscle, or bone, may have important roles in the bone health. Our aim was to study the association of body composition, adipokines, myokines, inflammation-related cytokines, growth factors, and serum 25-hydroxyvitamin D (S-25(OH)D)...

High Bone Mass (HBM) osteogenesis imperfecta (OI) is caused by dominant mutations in the C-propeptide cleavage site of COL1A1 or COL1A2, characterized by bone hypermineralization. To elucidate the role of C-propeptide processing in bone mineralization and development, we generated heterozygous HBM mice with both residues (Ala-Asp) of the COL1A1 cleavage site substituted (Thr-Asn) to prevent processing by BMP1. Two, 6- and 12-month WT and HBM bones were examin...

Objectives: Advanced or delayed physiological age may influence significantly health and disease processes. Physiological age can be estimated using several parameters including dental age (DA). Previous meta-analyses studying “Number of Teeth at 15 Months” (NT15M) and “Age at First Teeth Eruption” (AFTE) have identified 15 loci. We performed a genome-wide association study (GWAS) meta-analysis to identi...

Introduction: Perthes disease (PD), idiopathic femoral head avascular necrosis, often results in deformity. The underlying cause is unclear and long-term function is directly related to the roundness of femoral head. Current treatment include mechanical treatments and various surgical procedures, which are therapeutic but can’t prevent collapse. A multicentre, prospective, randomised controlled trial of 12 months zoledronic acid (ZA) in children with PD was conducted. We ...

Objectives: Spinal muscular atrophy (SMA) results in varying degrees of hypotonic immobility. Prior reports demonstrate an increased risk of fracture and a trend toward low bone mineral density (BMD) in this population. We aim to further characterize bone health in paediatric SMA patients by reporting the prevalence of fractures and low BMD (z-score≤−2.0) by SMA subtype, BMD of the lateral distal femur (LDF; an important fracture location in non-ambulatory...

The healing of skeletal fractures involves a cascade of overlapping cellular events. This study aims to deepen the understanding of molecular networks orchestrating these events.Standard closed fracture in the left femur of male 8–10 weeks old C57BL/6N mice were analyzed at (day=D) D3, D7, D10, D14, D21 & D28 post fracture (N=5/time point). Total RNA was prepared for whole genome expression profiling using Illumina μ-array kit. Dat...

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Heritability of bone mineral density (BMD) varies at skeletal sites, possibly reflecting different relative contributions of environmental and genetic influences. To quantify shared genetic influences across different sites, we estimated the genetic correlation of BMD at the upper limb (UL), lower limb (LL), and skull (S) obtained from whole body DXA scans, using bivariate genome-wide complex trait analysis (GCTA). The study (n=9395) combined data from the Avon Longit...

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To further characterize the role of serotonin (5HT) in bone metabolism, Wistar-Zagreb rat model consisting of the high-5HT and low-5HT subline with different platelet 5HT content and transporter (5HTT) activity has been used.Primary osteoclasts from the high-5HT subline had an increased expression of 5HTT, 5HT–2A receptor, Trap and cathepsin K, while osteoblasts showed no difference in the expression of 5HT elements or osteoblastic markers. However,...