Searchable abstracts of presentations at key conferences on calcified tissues

ba0001pp229 | Cell biology: osteoclasts and bone resorption | ECTS2013

The D477N mutation in OPTN leads to increased bone turnover and enhanced osteoclast formation in OptnD477N/D477N mice

Wani Sachin , Obaid Rami , Jones Ruth , Cohen Philip , Ralston Stuart , Albagha Omar

Recent GWAS have identified variants in the OPTN gene that predispose to Paget’s disease of Bone (PDB), a disease characterised by focal areas of increased bone turnover and enhanced osteoclast activity, suggesting a role for this gene in bone metabolism. The aim of this study was to investigate the role of OPTN in bone metabolism using a mouse model (OptnD477N/D477N) which harbours a D477N point mutation in the polyubiquitin binding ...