Bone Abstracts

Department of Biomedical Sciences and Medicine and Centre of Marine Sciences, University of Algarve, Faro, PortugalIn the last decade there has been a growing interest towards the use of fish as models to understand the basic mechanisms of cartilage and bone formation, maintenance and regeneration. In particular, zebrafish and medaka have become accepted models for human skeletal development and associated pathologies such as craniofacial dysplasia, oste...

The Runt-domain transcription factors Runx2 and Runx3 are known to drive chondrocyte maturation from prehypertrophic to the terminal stage. The RUNX family proteins form dimers with CBFb, and bind to consensus sequences of 5′-PuACCPuCa-3′ upstream of target genes to activate or repress transcription.To address the role of Runx3 transcription factor in zebrafish, we have isolated the different splice variants encoding distinct runx3 p...

Introduction: The etiology of Paget’s disease of bone (PDB) is not fully understood, but genetic factors play a clearly important role. Single nucleotide polymorphisms (SNPs) of OPTN gene within PDB6 locus have been highly associated with PDB, but no PDB causal mutation or functional effect on PDB development were reported to date. We aimed to identify functional SNPs associated with this bone disease.Methods: Relevant candidate genes from PDB6 locu...

Background: Bone metabolic disorders, such as osteoarthritis (OA), osteopenia and osteoporosis have been associated to iron overload, both in humans and animal models. In the case of hereditary hemochromatosis (HH), arthropathy represents one of the most prevalent and disabling symptoms. This work aims at investigating the roles of HH-related HFE mutation and iron accumulation on chondrocyte metabolism.Materials and methods: Primary cultures of articular...

Skeletogenesis is an intricate process controlled by numerous transcriptional factors, hormones and signalling pathways. Recently, microRNAs emerged as important players in skeletogenesis but, only few were identified and most of their targets remain unknown. Previous works showed that miR-199a-2/214 cluster is essential for skeletal development and that miR-214 inhibits bone formation in mammals. However, data regarding its skeletal role in other vertebrates is scarce and its...