Bone Abstracts

Paget’s disease of Bone (PDB) is caused by mutations in the gene encoding Sequestosome-1 (Q17STM1 or p62) that affect the C-terminal Ubiquitin-Associated (UBA) domain. A second isoform of Q17STM1 exists (referred to hereafter as 55kDa-Q17STM1), which lacks the N-terminal Phox and Bem1 (PB1) domain and has previously been reported to be ~45x more abundant than Q17STM1/p62 in osteoclasts. Mutations in the UBA domain will also occur in this isoform. Several of the UBA mutati...

Mutations in the C-propeptide cleavage site of both COL1A1 and COL1A2 cause dominant high bone mass (HBM) osteogenesis imperfecta (OI), characterized by bone hypermineralization. To elucidate the role of C-propeptide processing in bone formation, we generated heterozygous HBM mice in which both residues of the COL1A1 cleavage site were mutated to prevent cleavage by BMP1. HBM mice are smaller than WT in both weight and length and have extremely brittle bones....

RANKL induced osteoclastogenesis is mediated by several transcription factors such as NF-κB, AP-1 and Nfatc1. We have found that also cysteine proteinases are involved in the signaling pathway downstream RANK. Thus, cystatin C, Z-RLVG-CHN2 (the sequence of which is based upon one of the enzyme inhibitory domains in cystatin C) and the fungal molecule E-64 – inhibit RANKL induced mouse and human osteoclast formation in vitro (Strålberg et ...

Background: Progressive osseous heteroplasia (POH) (OMIM 166350) is a rare autosomal dominant condition, characterized by heterotopic ossification of the skin, subcutaneous fat and deep connective tissue. This condition is distinct from Albright’s hereditary osteodystrophy or Mccune–Albright syndrome (AHO) (OMIM 103580) and fibrodysplasia ossificans progressiva (FOP) (OMIM 135100).Presenting problem: We present an unu...

The c-Myb transcription factor is associated with proliferation of undifferentiated cells in number of tissues, but recent data suggests its role also in differentiation. c-Myb is important in formation of the cartilage, bone and apparently also in hard tissue mineralization (Matalova et al. 2011).Embryonic micromasses were established from mouse front limbs at the embryonic day E12. Micromass cultures represent an effective tool for experimenta...

Biographical DetailsWim Van HulWim Van Hul is full professor of Molecular biology and genetics at the University of Antwerp, Belgium. He obtained a bachelor degree in Chemistry from the University of Louvain (Belgium) and a master degree in biochemistry. He obtained his PhD on molecular genetics in 1993 from the University of Antwerp. He started his...

Introduction: Osteogenesis imperfecta (OI) is a genetically heterogeneous disorder characterized by bone fragility. OI type V, with autosomal dominant inheritance, is characterized by ossification of the forearm interosseus membrane, radiodense metaphyseal bands, propensity for hyperplastic callus formation, and mesh-like lamellation on bone histology. Type V OI probands are reported to have white sclerae and normal teeth. Recent reports identified the cause of type V OI as a ...

Objectives: Metabolic bone disease is a frequent complication of end-stage renal disease, characterised by a decreased bone mineral density, which can be measured with dual-energy X-ray absorptiometry. Its validity as a marker for clinical bone disease and increased fracture risk has never been established in adults with pediatric onset of end-stage renal disease (1–3). Adult survivors of pediatric end stage renal disease have very low bone mineral density and small statu...

Objectives: To assess the effects of short-term vitamin D supplementation on bone metabolism, glycaemic status and immune function in vitamin D deficient children.Method: Treatment with daily 5000 IU cholecalciferol supplementation for 6 weeks. At baseline and end of treatment serum 25 hydroxyvitamin D (25(OH)D), parathyroid hormone (PTH), alkaline phosphatase (ALP), serum collagen type 1 cross-linked C-telopeptide (CTX), serum calcium, HbA1c, sex hormon...

Biographical DetailsM van den Heuvel-Eibrink is Associate Professor of Pediatric Oncology at the Erasmus MC/Sophia Children’s Hospital, Rotterdam, The Netherlands. She began her medical career with an MD from the University of Utrecht and following a number of years of clinical work in the pediatric oncology field completed her PhD in Rotterdam in 2001. Since 2009 Dr M van den Heuvel...