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.

Penna, S., Capo, V., Palagano, E., Sobacchi, C., Villa, A. (2019). One disease, many genes: Implications for the treatment of osteopetroses. FRONTIERS IN ENDOCRINOLOGY, 10(FEB) [10.3389/fendo.2019.00085].

One disease, many genes: Implications for the treatment of osteopetroses

Penna, S;
2019

Abstract

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.
Articolo in rivista - Review Essay
Bone disease; Gene therapy; Hematopoietic stem cell transplantation; Osteoclasts; Osteopetrosis;
English
2019
10
FEB
85
none
Penna, S., Capo, V., Palagano, E., Sobacchi, C., Villa, A. (2019). One disease, many genes: Implications for the treatment of osteopetroses. FRONTIERS IN ENDOCRINOLOGY, 10(FEB) [10.3389/fendo.2019.00085].
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10281/239773
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