Searchable abstracts of presentations at key conferences on calcified tissues
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European Calcified Tissue Society Congress 2014

Prague, Czech Republic
17 May 2014 - 20 May 2014

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European Calcified Tissue Society Annual Congress, 17 - 20 May 2014; Prague, Czech Republic

ba0003pp186 | Genetics | ECTS2014

Pharmacogenomics of bisphosphonate treatment in Paget's disease of bone: retrospective and prospective analysis

Merlotti Daniela , Gianfrancesco Fernando , Rendina Domenico , Muscariello Riccardo , Esposito Teresa , Franci Maria Beatrice , Lucani Barbara , Campagna Maria Stella , Cresti Laura , Strazzullo Pasquale , Nuti Ranuccio , Gennari Luigi

We previously evidenced a reduced response to i.v. pamidronate in Q15STM1 mutation carriers (Q15STM1+) with Paget’s disease of bone (PDB). In order to confirm and extend this observation, we investigated the effect of Q15STM1 mutation and polymorphisms in three genes associated with PDB (TNFRSF11A; OPTN; TNFRSF11B) on the response to bisphosphonates. First, a retrospective study was performed in 335 patients treated wi...

ba0003pp187 | Genetics | ECTS2014

A novel mutation in IFITM5, encoding BRIL, impairs osteoblast production of PEDF and causes atypical type VI osteogenesis imperfecta

Reich Adi , Farber Charles R , Barnes Aileen M , Becerra Patricia , Rauch Frank , Cabral Wayne A , Bae Alison , Glorieux Francis H , Clemens Thomas L , Marini Joan C

Osteogenesis imperfecta (OI) type V is caused by a unique dominant mutation (c.−14C>T) in IFITM5, which encodes BRIL, a transmembrane ifitm-like protein most strongly expressed in osteoblasts, while type VI OI is caused by recessive null mutations in SERPINF1, encoding pigment epithelium-derived factor (PEDF). We identified a 25-year-old woman with severe OI, whose dermal fibroblasts and cultured osteoblasts displayed minimal secretion of PEDF, but ...

ba0003pp188 | Genetics | ECTS2014

Correlation of miRNA-mRNA regulatory network profile with bone mass in inbred strains of mice

Shin Chansoo , An Jee Hyun , Song Jung A , Yang Jae-Yeon , Choi Hyung Jin , Kim Sang Wan

Growing body of evidence shows that microRNAs play an important role in regulating bone mass. We investigated the cooperative microRNA-mRNA regulatory mechanism of peak bone mass in inbred strain of mice with different bone density using microarray analysis. Femur and tibia of 12-week old C3H/He (high bone density) and C57BL/6 (low bone density) were harvested to extract total bone RNAs for microarray. A total of 30 miRNAs were differentially expressed between bone tissue of C...

ba0003pp189 | Genetics | ECTS2014

A polymorphism in the TGF-β1 gene affects TGF-β1 secretion

Husted Lise , Sorensen Lotte , Stenkjaer Liselotte , Langdahl Bente

Transforming growth factor (TGF)-β1 is the most abundant growth factor in human bone. Several polymorphisms have been described in the TGF-β1 gene (TGFB1). We have previously shown that individuals with the CC genotype of the T29C polymorphism have higher bone mass at the femoral neck. The T29C polymorphism causes a change from leucine to proline at codon 10, which is located in the hydrophobic α-helical part of the signal peptide....

ba0003pp190 | Genetics | ECTS2014

Premature aging of bone is delayed by dietary restriction

van der Eerden Bram , Botter Sander , Reiling Erwin , Hoeijmakers Jan , Dolle Martijn , van Leeuwen Johannes

Loss of genomic maintenance contributes to aging, as exemplified by mutations in Ercc DNA repair proteins that lead to a plethora of progeroid syndromes of which some display accelerated bone loss. It is generally accepted that dietary restriction (DR) increases life span and improves organ function. We therefore assessed the impact of DR on life span and bone mass in WT and bona fide prematurely aging hypomorphic Ercc-deficient mice (Ercc1−/Δ).<...

ba0003pp191 | Genetics | ECTS2014

Functional analysis of a promoter polymorphism of optineurin, a gene associated to Paget's disease of bone

Silva Iris , Conceicao Natercia , Michou Laetitia , Cancela Leonor

Paget’s disease of bone (PDB) is the second most common metabolic bone disorder, after osteoporosis. Optineurin (OPTN) gene, which is located within the PDB6 locus, and appears to be upregulated by TNFα and NF-kB, has been found to be associated with PDB in several European populations with PDB in genome-wide association studies. Several nucleotidic variations in OPTN were previously associated with PDB and may contribute to PDB pathogenesis. Recently, we have identi...

ba0003pp192 | Genetics | ECTS2014

Genetic determinants of bone mineral density loss in aromatase inhibitors treatment in the B-ABLE Cohort

Rodriguez-Sanz Maria , Garcia-Giralt Natalia , Torres-del Pliego Elisa , Prieto-Alhambra Daniel , Servitja Sonia , Balcells Susana , Mellibovsky Leonardo , Grinberg Daniel , Tusquets Ignasi , Diez-Perez Adolfo , Nogues Xavier

Bone density (BMD) loss is a consequence of aromatase inhibitors (AI) treatment of breast cancer. B-ABLE cohort includes 391 postmenopausal women with early breast cancer starting AI therapy. Participants experienced a 1.98% (95% CI 1.54–2.42% P<0.0001) bone loss at lumbar spine (LS) and 1.24% (95% CI 0.81–1.67% P<0.0001) bone loss at femoral neck (FN) after 1 year on AI therapy and a 3.51% (95% CI 3.00–4.03% P<0.0001) bone...

ba0003pp193 | Genetics | ECTS2014

MK-7 enhances expression of genes related to bone, enamel and dentin, and reduces the expression of genes related to apoptosis in developing murine molars

Landin Maria A. , Shabestari Yashar , Sehic Amer , Osmundsen Harald

Introduction: The fat-soluble and vitamin K2 homologe Menaquinone-7 (MK-7) is needed for post-translational modification of proteins essential in blood coagulation, and in metabolic pathways in various tissues like bone. Recent studies found an association between long-term anticoagulant treatment (OAC) and reduced bone quality due to reduction of active osteocalcin. OAC is often linked to an undesired soft-tissue calcification in both children and adults and may lead to incre...

ba0003pp194 | Genetics | ECTS2014

Analysis of genetic polymorphisms in relation to bone mineral density and fracture risk in maltese postmenopausal women

Formosa Melissa , Anastasi Angela Xuereb

Background: Osteoporosis is a hereditary multifactorial disease characterised by low bone mass leading to an increased susceptibility to fracture. Bone mineral density (BMD) is the most widely used predictor of fracture risk. Gene variants have been found associated with a low BMD and increased fracture risk; nonetheless studies have identified the relationship between susceptibility genes and fractures independent of BMD.Objective: Eight single nucleoti...

ba0003pp195 | Genetics | ECTS2014

Interactions between the effects of polymorphisms in the RANK and RANKL genes affects bone mass

Andersen Jane Dahl , Harslof Torben , Husted Lise , Langdahl Bente

Osteoporosis is a common disorder with a partly genetic pathogenesis. Interaction between RANKL and its receptor RANK is essential in bone remodeling.We therefore investigated the effect of polymorphisms in the RANK and RANKL genes and interaction between the effects on bone mineral density (BMD) and vertebral fractures.The study was a case-control study with 462 osteoporotic patients and 336 controls. Ten polymor...

ba0003pp196 | Genetics | ECTS2014

Association of methylenetetrahydrofolate reductase (MTHFR) polymorphism (C677T) with clinical indicators of osteoporosis in postmenopausal Slovak women

Krajcovicova Vladimira , Durisova Jana , Galbavy Drahomir , Martiniakova Monika , Omelka Radoslav

Objective: The enzyme methylenetetrahydrofolate reductase (MTHFR) is known to play an important role in the removal of circulating homocysteine via the methionine cycle. C677T polymorphism is associated with higher plasma homocysteine levels, which could affect collagen maturation. The aim of the present study was to examine possible associations of C677T polymorphism in the MTHFR gene with a variability of femoral (F-BMD), spinal BMD (S-BMD) together with circulating...