Searchable abstracts of presentations at key conferences on calcified tissues

ba0001oc3.5 | Osteoporosis pathophysiology and genetics | ECTS2013

Genome-wide association identifies a new susceptibility locus at 4q35 associated with clinical vertebral fractures in post-menopausal women: the GEFOS-GENOMOS consortium

Alonso N , Estrada K , Herrera L , Kabir D , Olmos J M , Sanudo C , Riancho J A , Oei L , Medina-Gomez M C , Stenkjaer L , Bjerre L , Langdahl B , Brown M A , Duncan E L , Sims M , Kaptoge S , Reeve J , Lewis J , Prince R , Reppe S , Olstad O K , Gautvik K M , Garcia-Giralt N , Nogues X , Mencej-Bedrac S , Marc J , del Pino J , Gonzalez-Sarmiento R , Wolstein O , Eisman J , Feenstra B , Melbye M , Albagha O M E , WTCCC , Davies G , Starr J , Deary I , Quintela I , Fernandez C , Carracedo A , Lucas G , Elosua R , Uitterlinden A G , Rivadeneira F , Ralston S H

Vertebral fractures (VF) defined by morphometric analysis of spine radiographs are the most common complication of osteoporosis. Those that come to medical attention, with symptoms such as back pain and kyphosis are termed clinical vertebral fractures (CVF) and account for significant morbidity and mortality. Although much progress was made in identifying loci for bone mineral density, the genetic determinants of CVF remain unclear. Here we present the initial results from a g...

ba0003oc4.1 | Genetics of bone disease | ECTS2014

PLS3 mutations in X-linked osteoporosis with fractures

Zillikens M Carola , van Dijk Fleur S , Micha Dimitra , Riessland Markus , Marcelis Carlo LM , de-Die Smulders Christine E , Milbradt Janine , Franken Anton A , Harsevoort Arjan J , Lichtenbelt Klaske D , van de Peppel J , Pruijs Hans E , Rubio-Gozalbo M Estela , Zwertbroek Rolf , Moutaouakil Youssef , Egthuijsen Jaqueline , van der Eerden B , Hammerschmidt Matthias , Bijman Renate , Semeins Cor M , Bakker Astrid D , Everts Vincent , Klein-Nulend Jenneke , Campos-Obando Natalia , Hofman Albert , te Meerman Gerard J , van Leeuwen JP , Verkerk Annemieke JMH , Uitterlinden Andre G , Maugeri Alessandra , Sistermans Erik A , Waisfisz Quinten , Meijers-Heijboer Hanne , Wirth Brunhilde , Simon Marleen EH , Pals Gerard

Background: We identified a family with early onset X-linked osteoporosis and fracturesMethods: We performed whole exome sequencing of the X chromosome in three affected members. After discovering a putative pathogenic variant we performed Sanger sequencing of all exons of this gene in other members of this family and in 95 unrelated men suspected of OI type I without COL1A1/2 mutations. We also genotyped a SNP in this gene (minor allele frequency 0.02) ...

ba0001pp376 | Osteoporosis: pathophysiology and epidemiology | ECTS2013

Ursodeoxycholic acid protects osteoblastic cells from bilirubin and lithocholic acid induced apoptosis

Ruiz-Gaspa Silvia , Dubreuil Marta , Combalia Andres , Peris Pilar , Monegal Ana , Pares Albert , Guanabens Nuria

Introduction: Osteoporosis is a common complication in patients with chronic cholestasis, usually characterized by reduced bone formation. Ursodeoxycholic acid (UDCA) improves differentiation and mineralization and counteracts the damaging effects of bilirubin and lithocholic acid (LCA) in osteoblastic cells. Moreover, UDCA decreases apoptosis in a number of cell lines, but this antiapoptotic effect has not been investigated in bone cells.Aims: To assess...

ba0005p327 | Osteoporosis: pathophysiology and epidemiology | ECTS2016

Gene expression profiling of osteoblastic cells cultured with lithocholic acid or bilirubin. Implications in the pathogenesis of osteoporosis in liver diseases

Ruiz-Gaspa Silvia , Pares Albert , Dubreuil Marta , Combalia Andres , Peris Pilar , Monegal Ana , Guanabens Nuria

Low bone formation is considered to be the main feature in osteoporosis associated with cholestatic and end-stage liver diseases. Previous studies have demonstrated the deleterious consequences of retained substances such as lithocholic acid (LCA) and bilirubin (Bil) on osteoblastic cells. These effects are neutralized by ursodeoxycholic acid (UDCA). To gain new insights into cholestatic-induced osteoporosis, we have assessed the differential gene expression of osteoblastic ce...

ba0001pp33 | Bone biomechanics and quality | ECTS2013

Influence of the organic matrix of mineralized tissues on their dynamic mechanical properties assessed by scanning acoustic microscopy

Blouin Stephane , Puchegger Stephan , Klaushofer Klaus , Roschger Paul , Fratzl Peter

Mineralized tissues like bone, articular calcified cartilage or mineralized turkey leg tendon (MTLT) are build by a composite of hydroxyapatite nano-particles and organic matrix. In bone and MTLT the matrix is formed by collagen type-I, but in contrast to bone in MTLT the collagen is uniaxial orientated, while in cartilage the matrix consists of collagen type-II and proteoglycans.Composition/orientation differences were investigated by a new scanning aco...

ba0005s4.3 | East Meets West | ECTS2016

Development of osteoconductive and osteoinductive bone healing materials

Lee Jae Hyup

Autogenous bone graft has been used in the treatment of a fracture, non-union, and bone defect. However, bone graft substitutes have been developed and used because of the limited amount or donor site morbidity of the autogenous bone graft. Many kinds of bone graft substitutes including osteoconductive materials and osteoinductive materials are used for improving bone healing. Osteoconductive materials help to provide a three-dimensional structure to support the ingrowth of th...

ba0005p490 | Steroid hormones and receptors | ECTS2016

Phosphorylation of S122 in ERα is important for the skeletal response to estrogen treatment

Gustafsson Karin , Farman Helen , Lionikaite Vikte , Wu Jianyao , Henning Petra , Andersson Annica , Islander Ulrika , Bernardi Angelina , Windahl Sara , Skrtic Sofia , Sjogren Klara , Koskela Antti , Tuukkanen Juha , Krust Andree , Chambon Pierre , Ohlsson Claes , Lagerquist Marie

It is well established that estrogen, mainly via estrogen receptor alpha (ERα), has positive effects on bone, but estrogen is not considered as a treatment option against osteoporosis due to negative side-effects in other tissues. ERα is widely subjected to posttranslational modifications (PTMs), which can affect cellular responses to estrogen in a tissue specific manner by influencing the function of ERα and its interactions with other proteins. The in vivo...

ba0002oc26 | Chronic diseases | ICCBH2013

Vertebral fractures in the 3-year period following steroid initiation among children with chronic illnesses

Miettunen P M , Taljaard M , Alos N , Atkinson S , Cabral D , Clarson C , Couch R , Cummings E A , Feber J , Grant R M , Lentle B , Matzinger M , Nadel H , Rodd C , Shenouda N , Stein R , Stephure D , Taback S , Rauch F , Siminoski K , Ward L M , the Canadian STOPP Consortium

Objectives: To describe the incidence of vertebral fractures in steroid-treated children.Methods: Fractures were assessed prospectively each year for 3 years according to the Genant semi-quantitative method. Proportions of children with incident fractures were determined annually over the study period. To examine associations with baseline clinical factors, the 3-year total number of incident fractures was analyzed using multivariable Poisson regression....

ba0003oc2.2 | Osteoporosis epidemiology | ECTS2014

Effect of daily vitamin B12 and folic acid supplementation on fracture incidence in elderly with an elevated plasma homocysteine level: B-PROOF, a randomized controlled trial

van Wijngaarden JP , Swart KMA , Enneman AW , Dhonukshe-Rutten RAM , van Dijk SC , Ham AC , Brouwer-Brolsma EM , van der Zwaluw NL , Sohl E , van Meurs JBJ , Zillikens MC , van Schoor NM , van der Velde N , Brug J , Uitterlinden AG , Lips P , de Groot CPGM

Background: Elevated plasma homocysteine levels are a risk factor for osteoporotic fractures. Supplementation with vitamin B12/folic acid lowers homocysteine levels. This study aimed to determine whether vitamin B12/folic acid supplementation reduces osteoporotic fracture incidence in hyperhomocysteinemic elderly.Methods: B-PROOF is a double-blind, randomized, placebo-controlled trial including 2 919 participants aged ≧65 years with elevated homocyste...