Skeletal diseases

Our unit has a general interest in human disorders caused by activating mutations of the GNAS gene. Research activity is particularly focused on the molecular and cellular pathology of a skeletal disease, Fibrous Dysplasia, caused by the effects of GNAS activating mutations on human skeletal stem cells. Our previous studies have revealed specific aspects of bone formation and metabolism which are affected by the mutations and seem to be critical for the development and the clinical morbidity of the disease. Currently, we are generating, in vitro experimental, models of Fibrous Dysplasia to be used for translational studies. We plan to use these models to test specific corrective approaches, based on cell and gene therapy, which are currently being developed in conjunction with other teams of this Institution.

Unit members

Selected publications

Minasi MG*, Riminucci M*, De Angelis L, Borello U, Berarducci B, Innocenzi A, Caprioli A, Sirabella D, Baiocchi M, Jaffredo T, Broccoli V, Bianco P,  Cossu G: The Meso-Angioblast: A Multipotent, Self-Renewing Cell, That Originates From The Dorsal Aorta And Differentiates Into Mesodermal Tissues.
*Equal contributors. Development 2002, 129: 2773-278

Riminucci M, Collins M, Lala R, Corsi A, Matarazzo P, Gehron Robey P,  Bianco P: An R201 activating mutation of the GNAS 1 (Gsa) gene in Cushing's disease. Molecular Pathology 2002, 55 (1): 58-60

Riminucci M, Collins MT, Corsi A, Boyde A, Murphey MD, Wientroub S, Kuznetsov SA, Cherman N, Gehron Robey P, Bianco P: Gnatho-diaphyseal dysplasia: a syndrome of fibro-osseous lesions of jawbones, bone fragility, and long bone bowing. Journal of Bone and Mineral Research 2001, 16: 1710-1718

Riminucci M, Fisher LW, Majolagbe A, Lala R, Corsi A, de Sanctis C, Gehron Robey P, Bianco P: A novel GNAS 1 mutation, R201G, in McCune-Albright syndrome (MAS). Journal of Bone and Mineral Research 1999, 14: 1987-1989

Bianco P, Kuznetsov S, Riminucci M, Fisher LW, Spiegel AM, Gehron Robey P:  Reproduction of human fibrous dysplasia of bone in immunocompromised mice by transplanted mosaics of normal and Gsa -mutated skeletal progenitor cells. Journal of Clinical Investigation 1998, 101: 1737-1744