Expression of RUNX2 and its signaling partners TCF7, FGFR1/2 in cleidocranial dysplasia.

Elżbieta Pawłowska; Katarzyna A Wójcik; Ewelina Synowiec; Joanna Szczepańska; Janusz Błasiak

doi:10.18388/abp.2014_866

Elżbieta Pawłowska Department of Orthodontics, Medical University of Lodz, Łódź, Poland.;
Katarzyna A Wójcik Faculty of Biology and Environmental Protection, Department of Molecular Genetics, University of Lodz, Łódź, Poland.;
Ewelina Synowiec Faculty of Biology and Environmental Protection, Department of Molecular Genetics, University of Lodz, Łódź, Poland.;
Joanna Szczepańska Department of Pediatric Dentistry, Medical University of Lodz, Łódź, Poland.;
Janusz Błasiak Faculty of Biology and Environmental Protection, Department of Molecular Genetics, University of Lodz, Łódź, Poland.;

DOI: https://doi.org/10.18388/abp.2014_866

Abstract

RUNX2 is a member of the PEBP2/CBF transcription factors family controlling the expression of genes whose products are essential for bone formation. Mutations in the RUNX2 gene may be associated with cleidocranial dysplasia (CCD), a rare skeletal disease characterized by stature aberrations, delayed closure of the cranial sutures, hypoplastic or aplastic clavicles, and multiple dental abnormalities. As RUNX2 is involved in many signaling pathways, we hypothesize that CCD may be associated with their changes. We determined the expression of RUNX2 and its signaling partners TCF7, involved in canonical Wnt signaling, and fibroblast growth factor receptors, FGFR1 and FGFR2 in periodontum of CCD patients and control individuals. We did not observe any differences between the level of RUNX2, TCF7 and FGFR1/2 mRNA, determined by real-time PCR, in CDD patients and controls. Therefore, RUNX2 signaling pathways with their partners TCF7 and FGFR1/2 may not be involved in CCD pathogenesis.