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Artículo

Unraveling the mystery of Gaucher bone density pathophysiology

Rozenfeld, Paula AdrianaIcon ; Crivaro, Andrea NataliaIcon ; Ormazabal, Maximiliano EmanuelIcon ; Mucci, Juan MarcosIcon ; Bondar, Constanza MaríaIcon ; Delpino, María VictoriaIcon
Fecha de publicación: 02/2021
Editorial: Academic Press Inc Elsevier Science
Revista: Molecular Genetics And Metabolism
ISSN: 1096-7192
Idioma: Inglés
Tipo de recurso: Artículo publicado
Clasificación temática:
Otras Ciencias de la Salud

Resumen

Gaucher disease (GD) is caused by pathogenic mutations in GBA1, the gene that encodes the lysosomal enzyme β-glucocerebrosidase. Despite the existence of a variety of specific treatments for GD, they cannot completely reverse bone complications. Many studies have evidenced the impairment in bone tissue of GD, and molecular mechanisms of bone density alterations in GD are being studied during the last years and different reports emphasized its efforts trying to unravel why and how bone tissue is affected. The cause of skeletal density affection in GD is a matter of debates between research groups. and there are two opposing hypotheses trying to explain reduced bone mineral density in GD: increased bone resorption versus impaired bone formation. In this review, we discuss the diverse mechanisms of bone alterations implicated in GD revealed until the present, along with a presentation of normal bone physiology and its regulation. With this information in mind, we discuss effectiveness of specific therapies, introduce possible adjunctive therapies and present a novel model for GD-associated bone density pathogenesis. Under the exposed evidence, we may conclude that both sides of the balance of remodeling process are altered. In GD the observed osteopenia/osteoporosis may be the result of contribution of both reduced bone formation and increased bone resorption.
Palabras clave: BONE , GAUCHER , MINERAL DENSITY , PATHOPHYSIOLOGY , RESORPTION
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info:eu-repo/semantics/openAccess Excepto donde se diga explícitamente, este item se publica bajo la siguiente descripción: Atribución-NoComercial-SinDerivadas 2.5 Argentina (CC BY-NC-ND 2.5 AR)
Identificadores
URI: http://hdl.handle.net/11336/134582
URL: https://www.sciencedirect.com/science/article/abs/pii/S1096719220301803?via%3Dih
DOI: http://dx.doi.org/10.1016/j.ymgme.2020.07.011
Colecciones
Articulos(IIFP)
Articulos de INST. DE ESTUDIOS INMUNOLOGICOS Y FISIOPATOLOGICOS
Articulos(INIGEM)
Articulos de INSTITUTO DE INMUNOLOGIA, GENETICA Y METABOLISMO
Citación
Rozenfeld, Paula Adriana; Crivaro, Andrea Natalia; Ormazabal, Maximiliano Emanuel; Mucci, Juan Marcos; Bondar, Constanza María; et al.; Unraveling the mystery of Gaucher bone density pathophysiology; Academic Press Inc Elsevier Science; Molecular Genetics And Metabolism; 132; 2; 2-2021; 76-85
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