Bone Abstracts

Aim: Scoliosis is a common skeletal problem affecting 10–30% of patients with neurofibromatosis type 1 (NF1). NF1 patients have been shown to have reduced bone mineral density (BMD) which may play a role in the pathogenesis or progression of scoliosis. Our centre is one of four international centres currently evaluating the efficacy of various spinal imaging techniques and BMD as predictors for scoliosis in NF1. In our cohort we measured the lumbar spine (LS) BMD both by ...

Recent studies have demonstrated that the global or osteoblast-specific deletion of neuropeptide Y Y1 receptor (Y1R), as well as the pharmacological blockade of Y1R, leads to pronounced anabolic effects in bone metabolism. This suggests that anti-Y1R drug therapy might have clinical applications for the prevention/recovery of bone loss occurring in osteoporosis. Given the high fracture incidence in this target population, it remained...

Biographical DetailsKen White, PhD is the David D Weaver Professor of Genetics in the Department of Medical and Molecular Genetics at the Indiana University School of Medicine in Indianapolis, IN, USA. He serves as Director of the Division of Molecular Genetics and Gene Therapy. Dr K White’s research interests focus on the molecular genetics of metabolic bone diseases in regards to p...

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Autosomal dominant osteopetrosis type II (ADO2) is a rare osteosclerotic disease due heterozygous missense mutations of the CLC7 gene encoding the type seven chloride channel. Our two labs independently generated the first C57 black 6 (B6) mouse model of ADO2 by inserting the pG213R-clc7 mutation. Homozygous mice showed lack of tooth eruption and died within 30 days of age with severe osteopetrosis and central nervous system degenera...

Objective: Evidence for further reduction of nonvertebral fracture (NVFX) beyond 3 years of antiresorptive therapy is limited. Since long-term denosumab (DMAb) treatment is associated with continuous increases in BMD and sustained fracture reduction, we analyzed the influence of femoral neck (FN) BMD after 3 years on NVFX rates.Methods: Long-term subjects received 7 continuous years of DMAb; cross-over subjects received 3 years of placebo (FREEDOM) and 4...

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...

Background: Osteocalcin has an important role in bone metabolism. Uncarboxylated osteocalcin predicts risk for hip fracture and lower bone mineral density (BMD). Warfarin inhibits carboxylation of osteocalcin, providing a mechanistic link between warfarin and impaired bone metabolism. Studies examining the relationship between warfarin use and BMD have been inconsistent. The goal of this study was to further characterize this relationship.Population: CaM...

Objectives: The determinants of areal bone mineral density (aBMD) and hip geometry estimates in adolescent athletes are poorly understood. This study aimed to identify the determinants of aBMD and hip geometry estimates in adolescent male athletes.Methods: One hundred twenty one males (13.1±0.1 years) were measured: 41 swimmers, 37 footballers, 29 cyclists and 14 controls. Dual energy X-ray absorptiometry (DXA) measured aBMD at lumbar spine, femoral...

Although Vitamin D deficiency is the most common form of rickets worldwide, when there is a failure to respond to cholecalciferol, inborn errors of vitamin D metabolism should be considered. We describe two unrelated individuals who presented with early onset rickets characterised by reduced serum levels of 25(OH)D and 1,25(OH)2D, and a deficient response to Vitamin D2/D3 and calcitriol. Case 1: A Caucasian Australian girl with non-consanguineous parents ...