Bone Abstracts

Fractures in children are common; prospective cohort studies suggest narrower bones predispose to fracture. Early life events can influence later growth and development. Observational studies suggest children born to mothers with lower vitamin D levels during pregnancy have narrower bones. We investigated the effects of maternal vitamin D deficiency on offspring’s bones’ response to mechanical loading in a model system.C57BL/6 female mice (...

To use HRpQCT to investigate the effects of short term but intense exercise on the bone architecture of the distal radius in exercise-naïve women, with the ultimate aim of developing exercise regimes for children that will maximise their peak bone mass.We have recruited 16 of 20 proposed exercise-naïve women, aged 18–25, for a 12-week exercise study. The exercise consists of supervised hammering of a metal plate, using their dominant arm, ...

Adaptive responses of the skeleton to loading changes architecture and physical properties in order to optimise strength for function. However, bone is subjected to many local and circulating osteotropic factors, most acting on G-protein coupled receptors. Receptor activity modifying protein-3 is a single trans-membrane domain receptor accessory protein, which aids in trafficking of calcitonin and calcitonin-like receptors to the cell surface and changes ligand selectivity. As...

Fractures in infancy raise the spectre of child abuse; it has been suggested that lack of vitamin D could result in bone abnormalities that could predispose to fractures. We utilised a mouse model system to investigate whether vitamin D deficiency in utero alters early bone growth and development.C57BL/6 female mice received vitamin D deficient or replete diet for 6 weeks, then mated and continued on their respective diets until weaning. Pups were culled...

Objectives: Maternal vitamin D status in pregnancy is associated with neonatal bone mass, and altered DNA methylation. Mice exposed to early life vitamin D deficiency have lower bone mass and reduced bone accrual in response to mechanical loading. Using tibias from these mice we assessed DNA methylation of promoters of genetic loci important for bone growth and development.Methods: C57/BL6 mice received a vitamin D replete or deplete diet for 6 weeks per...

Background: Osteogenesis imperfecta (OI), the commonest inherited bone fragility disorder, affects 1/15,000 live births resulting in frequent fractures and reduced mobility, with significant impact on quality of life. Early diagnosis is important, as therapeutic advances can lead to improved clinical outcomes.Methodology and results: Trio whole exome sequencing in patients with OI identified, in two patients, compound heterozygous mutations in NBAS</...