Searchable abstracts of presentations at key conferences on calcified tissues

ba0004oc14 | (1) | ICCBH2015

Small interfering RNAs as an innovative therapeutic approach for the autosomal dominant osteopetrosis type 2 (ADO2)

Capulli Mattia , Maurizi Antonio , Ventura Luca , Rucci Nadia , Teti Anna

Autosomal dominant osteopetrosis type 2 (ADO2) is a rare genetic disease due to reduced osteoclast function. Clinical manifestations are variable, and in some cases the symptoms, including frequent fractures, osteomyelitis, hematologic and neural failures, are already evident during childhood and worsen with age. In 70% of cases, ADO2 is caused by heterozygous dominant negative mutations of the CLCN7 gene, encoding the Cl−/H+ antiporter type 7. We hypothesized that silen...

ba0006p189 | (1) | ICCBH2017

A deep phenotyping of autosomal dominant osteopetrosis type 2 (ADO2) mouse model revealed multiorgan dysfunctions

Maurizi Antonio , Capulli Mattia , Patel Rajvi , Rucci Nadia , Teti Anna

Objectives: ADO2 is a genetic bone disease induced by dominant negative mutations of the proton/chloride antiporter ClC7 encoded by the CLCN7 gene. In osteoclasts, ClC7 is crucial for lysosome function and resorption lacuna acidification. However, Clcn7 is expressed in several cell types in various organs, including brain, lungs, kidneys and spleen. Therefore, we asked whether Clcn7 mutations could affect other tissues beyond the bone.<p class="a...

ba0005ht1 | (1) | ECTS2016

Storage disease and neurological phenotype in autosomal dominant osteopetrosis type 2 (ADO2). A preclinical study

Maurizi Antonio , Capulli Mattia , Cortes Juliana , Rito Laura Di , Rucci Nadia , Teti Anna

ADO2 is a debilitating genetic bone disease causing multiple fractures and other severe symptoms. A mouse model of ADO2, harbouring the heterozygous Clcn7G213R gene mutation, phenocopies the human syndrome. The Clc7 gene encodes the ClC7 dimeric 2Cl−/1H+ antiporter that is almost ubiquitously expressed, although the mutations hit especially the osteoclasts impairing bone resorption. By immunofluorescence, we observed that the mutant ClC7 ...

ba0005oc4.3 | Catabolism and metabolism | ECTS2016

Connecting the dots between bone and energy metabolism: the role of Lipocalin 2

Capulli Mattia , Gemini-Piperni Sara , Maurizi Antonio , Ponzetti Marco , Teti Anna , Rucci Nadia

We previously demonstrated the involvement of Lcn2 in bone loss induced by mechanical unloading. This prompted us to investigate bone phenotype of Lcn2−/− mice by μCT, which showed an osteopenic phenotype, characterized by 40% lower trabecular bone volume, 50 and 21% lesser trabecular number and thickness, respectively, and 20% higher trabecular separation, compared to WT, while cortical thickness was significantly lower (40%) only in elderly Lcn2<s...

ba0001pp476 | Other diseases of bone and mineral metabolism | ECTS2013

multidisciplinary studies of ancient calcified tissues II: contents from Egyptian canopic jars

Rucci Nadia , Arrizza Lorenzo , Capulli Mattia , Maurizi Antonio , Mercurio Cinzia , Guidotti Maria Cristina , Fornaciari Gino , Teti Anna , Ventura Luca

Ancient Egyptians were well known for the art of embalming, performed in the belief that preservation of the body was essential for survival in the afterlife. During the mummification process, internal organs were removed and some of them (lungs, stomach, liver, and intestines) washed, dehydrated with natron, perfumed, and stored in so-called canopic jars, buried with the mummy. Each jar had established contents and its own protective deity. To date, a limited number of studie...

ba0003pp113 | Cell biology: osteoblasts and bone formation | ECTS2014

Bone-anabolic effects of sulforaphane, a naturally occurring isothiocyanate on bone metabolism

Thaler Roman , Dudakovic Amel , Rucci Nadia , Maurizi Antonio , Sturmlechner Ines , Spitzer Silvia , Rumpler Monika , Van Wijnen Andre J , Teti Anna , Klaushofer Klaus , Varga Franz

Few drugs generate bone-stimulatory effects via epigenetic mechanisms. Modulation of CpG-residues hydroxymethylation in gene-promoters of key osteoblast-related factors (e.g., DLX5) induces their expression and increases osteoblast differentiation in vitro. The chemical properties of sulforaphane (SFN), a natural compound abundantly present in cruciferous vegetables like broccoli, suggest that it may have similar molecular and biological effects. Previous stu...