Cysteamine treatment restores the in vitro ability to differentiate along the osteoblastic lineage of mesenchymal stromal cells isolated from bone marrow of a cystinotic patient. J Transl Med, 2015

    • Conforti, A., et al. Emma, F. Bone/therapies

    Cysteamine treatment restores the in vitro ability to differentiate along the osteoblastic lineage of mesenchymal stromal cells isolated from bone marrow of a cystinotic patient. J Transl Med, 2015

    • Cystinotic pluripotent bone cells isolated from a cystinosis patients bone marrow had a reduced ability to differentiate into osteoblasts (bone laying cells). Alkaline phosphatase is an enzyme that indicated bone osteoblast activity and bone growth. The Cystinotic cells had low alkaline phosphatase levels compared to healthy bone cells. Their capacity to differentiate into osteoblasts and alkaline phosphatase levels are restores when treated with cysteamine. ZONAB factor may be responsible for the lack of differentiation of cystinotic pluripotent cells into osteoblasts as it is seen to cause de-differentiation of cystinotic proximal tubular epithelial cells.

    Grants/Funding: Bando Giovani Ricercatori, AIRC, HO2020 project “RETHRIM” and Regione Lazio

Intrinsic Bone Defects in Cystinotic Mice. Am J Pathol, 2019

  • Bambino Gesù Children’s Hospital, Rome, Italy
    • Battafarano, G., et al. Emma, F. Taranta, A. Del Fattore, A. Bones/Disease Models

    Intrinsic Bone Defects in Cystinotic Mice. Am J Pathol, 2019

    • Bone complication have been reported in cystinosis patients, where bone strength and thickness are decreased. In this study it was determined that bone defects in cystinotic mice are a result of dysfunction in bone remodelling and not renal loss of bone minerals due to Fanconi syndrome. The cystinotic mice show decreased bone density and volume. Blood markers that quantify bone remodelling activity were low. When the bones of the cystinotic mice were studies closely, impaired osteoblasts and osteoclasts function was revealed, which results in reduced bone remodelling activity.

    Grants/Funding: Cystinosis Research Foundation and Italian Ministry of Healthy Ricerca Corrente