Looking for new anabolic treatment from rare diseases of bone formation

Author:

Rossi Michela1,Battafarano Giulia1,De Martino Viviana2,Scillitani Alfredo3,Minisola Salvatore2,Del Fattore Andrea1

Affiliation:

1. 1Bone Physiopathology Unit, Genetics and Rare Diseases Research Area, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy

2. 2Department of Clinical, Internal, Anaesthesiology and Cardiovascular Sciences, Sapienza University, Rome, Italy

3. 3Endocrinology Unit, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Casa Sollievo della Sofferenza, Foggia, Italy

Abstract

Bone remodelling is a complex mechanism regulated by osteoclasts and osteoblasts and perturbation of this process leads to the onset of diseases, which may be characterised by altered bone erosion or formation. In this review, we will describe some bone formation-related disorders as sclerosteosis, van Buchem disease, hypophosphatasia and Camurati–Engelmann disease. In the past decades, the research focused on these rare disorders offered the opportunity to understand important pathways regulating bone formation. Thus, the identification of the molecular defects behind the etiopathology of these diseases will open the way for new therapeutic approaches applicable also to the management of more common bone diseases including osteoporosis.

Publisher

Bioscientifica

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

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