2019/02/19 by Sara Penna, Valentina Capo, Eleonora Palagano +2 · 76 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Bone Metabolism and Diseases #NF-κB Signaling Pathways #Cytokine Signaling Pathways and Interactions #Osteopetrosis #Disease #Medicine #Osteoclast #Genetic enhancement #Bone marrow #Transplantation #Hematopoietic stem cell transplantation #Bone marrow transplantation #Stem cell #Bioinformatics #Immunology #Biology #Pathology #Internal medicine #Gene #Genetics
paper · pdf · doi:10.3389/fendo.2019.00085
published in Frontiers in Endocrinology 10, 85 (Frontiers Media)
openalex publication_date 2019/02/19 · openalex created_date 2025/10/10 · openalex updated_date 2026/08/05
Osteopetrosis is a condition characterized by increased bone mass due to defects in osteoclast function or formation. In the last decades, the molecular dissection of osteopetrosis has unveiled a plethora of molecular players responsible for different forms of the disease, some of which present also primary neurodegeneration that severely limits the therapy. Hematopoietic stem cell transplantation can cure the majority of them when performed in the first months of life, highlighting the relevance of an early molecular diagnosis. However, clinical management of these patients is constrained by the severity of the disease and lack of a bone marrow niche that may delay immune reconstitution. Based on osteopetrosis genetic heterogeneity and disease severity, personalized therapies are required for patients that are not candidate to bone marrow transplantation. This review briefly describes the genetics of osteopetrosis, its clinical heterogeneity, current therapy and innovative approaches undergoing preclinical evaluation.