Searchable abstracts of presentations at key conferences on calcified tissues

ba0001pp481 | Other diseases of bone and mineral metabolism | ECTS2013

Single nucleotide polymorphisms identification and functional analysis in PDB6 locus: a target locus for Paget's disease of bone

Silva Iris , Conceicao Natercia , Michou Laetitia , Cancela M Leonor

Introduction: The etiology of Paget’s disease of bone (PDB) is not fully understood, but genetic factors play a clearly important role. Single nucleotide polymorphisms (SNPs) of OPTN gene within PDB6 locus have been highly associated with PDB, but no PDB causal mutation or functional effect on PDB development were reported to date. We aimed to identify functional SNPs associated with this bone disease.Methods: Relevant candidate genes from PDB6 locu...

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...

ba0005p257 | Genetics and Epigenetics | ECTS2016

Comparative analysis of human and zebrafish OPTN: molecular and evolutionary perspectives

Silva Iris A.L. , Conceicao Natercia , Michou Laetitia , Leonor Cancela M.

Optineurin (OPTN) is a protein encoded by the OPTN gene. This protein is involved in several cellular mechanisms such as autophagy, NF-κB signaling, cellular morphogenesis, membrane and vesicle trafficking, and transcription activation. Mutations in OPTN have been described in glaucoma, amyotrophic lateral sclerosis and other neurological diseases. More recently, a polymorphism in this gene was also identified by a genome wide association study to be ass...

ba0001pp270 | Genetics | ECTS2013

SQSTM1/P392L post-zygotic mutations in unrelated patients with Paget's disease of bone

Guay-Belanger Sabrina , Gagnon Edith , Morissette Jean , Brown Jacques P , Michou Laetitia

Introduction: Paget’s disease of bone (PDB) has an autosomal-dominant mode of inheritance in one-third of cases. The germinal SQSTM1/P392L mutation is the most frequent mutation, present in 40% of patients with a familial form of PDB, and 8% of unrelated patients. Fibrous dysplasia (FD) is a rare bone disorder, mono or polyostotic, caused by post-zygotic mutations in GNAS gene, for which a PCR-clamping method was developed to ease their detection and avo...

ba0001oc1.6 | Osteoporosis epidemiology and long term treatment complications | ECTS2013

Femur geometrical parameters in the pathogenesis of atypical femur fractures

Morin Suzanne N , Godbout Benoit , Wall Michelle , Belzile Etienne L , Michou Laetitia , Ste-Marie Louis-Georges , Karaplis Andrew C , de Guise Jacques A , Brown Jacques P

Background: Atypical femur fractures (AFF) arise in the subtrochanteric and diaphyseal regions. Because of this unique distribution, we hypothesized that patients with AFF demonstrate specific geometrical variations of their femur whereby baseline tensile forces applied to the lateral cortex are higher and might favor the appearance of these rare stress fractures, when exposed to bisphosphonates.Methods: Subjects who sustained AFF, as defined by the ASBM...