Research project

Contributo SIOMMMS 2021 (DSB.AD005.114)

Thematic area

Biomedical sciences

Project area

Genetica (DSB.AD005)

Structure responsible for the research project

Institute of genetics and biophysics "Adriano Buzzati Traverso" (IGB)

Project manager

Phone number: +390816132330


Paget's disease of bone (PDB) is a bone remodeling disorder, where osteoclasts and osteoblasts show a significantly deregulated activity of bone resorption and deposition, respectively, with consequent formation of fragile and painful bone tissue. Rarely, PDB can be complicated byh a tumor degeneration of affected bones, and the most commonly associated tumor is osteosarcoma, which makes the prognosis poor in the most cases. In the lab of Dr. Gianfrancesco (IGB-CNR), we recently identified PFN1, encoding the Profilin 1, as gene responsible for a severe and early onset form of PDB, complicated by osteosarcoma. Here, I propose to deepen the role of PFN1 in the regulation of bone metabolism. Therefore, I will use cellular models engineered with the CRISPR-Cas9 technology (RAW264.7 and MC3T3) as well as our Pfn1 knock-in mouse model, with the purpose of dissect the effect of Profilin 1 depletion on bone cells and malignant transformation. To this end, I will perform RNA-sequencing experiments on wild type and Pfn1 knock-out RAW264.7 cells in basal conditions and after full osteoclast differentiation, in ordet to shed light on deregulated pathways that lead towards an increased [...]

Start date of activity



Profilin 1, Paget's disease, Osteosarcoma

Last update: 30/11/2023