Bone Abstracts

MicroRNAs are important regulators of gene expression with documented role in bone metabolism and osteoporosis. Moreover, the use of miRNAs constitutes potential therapeutic targets. Our aim was to identify miRNAs differentially expressed in fractured compared to healthy bone. Additionally, we performed a miRNA profiling of primary osteoblasts to assess the origin of the differentially expressed miRNAs. Total RNA was extracted from fresh femoral neck trabecular bone from women...

In a meta-analysis by Estrada et al. (2012), 56 loci were found associated with BMD, 14 of which were also associated with osteoporotic fracture. Several of these genes belong to the Wnt signaling pathway, including two inhibitors: DKK1 and SOST.To better understand the role of these genes in BMD determination and fracture susceptibility, we aimed to explore their allelic architecture by resequencing all coding exons and flanking region...

see PP277....

The aims of this study were to establish the prevalence of the high bone mass (HBM) phenotype in a cohort of Spanish postmenapausal women (BARCOS); to determine whether any of the HBM cases carry LRP5 or DKK1 mutations; to test the hypothesis of an inverse correlation between the number of common variant risk alleles and HBM; and to characterize the expression of osteoblast-specific and Wnt pathway genes in primary osteoblast RNA samples from two HBM cases.</...

Over the past decade, many GWAs and meta-analyses were performed to identify genes and regions involved in bone metabolism and in the osteoporotic phenotypes. Nevertheless, the majority of these GWAS results were not tested at any functional level. This study aims to find and study functional regions in the RANK and RANKL genes that encode well-established proteins in the bone remodeling equilibrium. SNPs, chosen for their location in an evolutionary conserve...