Progetto di ricerca

Contributo SIOMMMS 2021 (DSB.AD005.114)

Area tematica

Scienze biomediche

Area progettuale

Genetica (DSB.AD005)

Struttura responsabile del progetto di ricerca

Istituto di genetica e biofisica "Adriano Buzzati Traverso" (IGB)

Responsabile di progetto

Telefono: +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 [...]

Data inizio attività


Parole chiave

Profilin 1, Paget's disease, Osteosarcoma

Ultimo aggiornamento: 02/03/2024