Bone Abstracts

During the differentiation of the osteoclast, it transform from a mono-nucleated cell to multinucleated cell by fusion of its precursors. Although, cell fusion is a complicated process which likely involves many regulating proteins, only a few osteoclast fusion regulating proteins were identified. We have identified dual-specificity tyrosine-phosphorylation regulated kinase 2 (Dyrk2) as a novel regulator of the osteoclast fusion process. Dyrk2 belongs to a family of protein ki...

Objectives: Osteogenesis Imperfecta (OI) is a collagen-related disorder. Type V OI, caused by a recurrent dominant mutation in the plasma membrane protein IFITM5/BRIL, and type VI OI, caused by recessive null mutations in the anti-angiogenic factor PEDF, have distinct features. IFITM5 S40L, reported in six patients, causes severe dominant OI with phenotype and bone histology similar to type VI, rather than Type V, OI. Our objective is to understand the pathway connecting IFITM...

Objectives: A common feature of nearly all forms of osteogenesis imperfecta (OI) is a hypermineralized bone matrix. Null mutations in SERPINF1, encoding the potent antiangiogenic factor PEDF, lead to type VI OI with excessive osteoid formation, abnormal osteoblast-osteocyte development and increased matrix mineralization. Recently, atypical type VI OI has been delineated, caused by a loss-of-function mutation (p.S40L) in IFITM5 the causative gene for type V OI. The 6 cases rep...