Bone Abstracts

Background: LRP4 gene encodes a member of the LDL receptor gene family, expressed by osteoblasts, which negatively regulates Wnt/β-catenin signalling by potentiating the inhibitory effect of sclerostin on LRP5 signalling. Previously, missense mutations of LRP4 have been described in patients with the phenotype of sclerosteosis, a disease associated with high bone mass and bone overgrowth. Here we investigated the hypothesis the LRP4 mut...

Osteoporosis pseudoglioma syndrome (OPPGS) is a rare autosomal recessive disorder characterised by congenital or juvenile-onset blindness, severe juvenile-onset osteoporosis, and skeletal fragility. OPPGS is caused by loss-of-function mutations in the LRP5 gene, a member of the LDL receptor family. It activates the canonical Wnt/β-catenin pathway, regulating osteoblastic bone formation. We investigated a 40-year-old Caucasian male presenting with congenital blind...

Vertebral fractures (VF) defined by morphometric analysis of spine radiographs are the most common complication of osteoporosis. Those that come to medical attention, with symptoms such as back pain and kyphosis are termed clinical vertebral fractures (CVF) and account for significant morbidity and mortality. Although much progress was made in identifying loci for bone mineral density, the genetic determinants of CVF remain unclear. Here we present the initial results from a g...