Unraveling the mystery of Gaucher bone density pathophysiology

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 tis...

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Detalles Bibliográficos
Autores principales: Rozenfeld, Paula Adriana, Crivaro, Andrea Natalia, Ormazabal, Maximiliano Emanuel, Mucci, Juan Marcos, Bondar, Constanza María, Delpino, María Victoria
Formato: Articulo Preprint
Lenguaje:Inglés
Publicado: 2021
Materias:
Biología
Gaucher, bone
Mineral density
Resorption
Pathophysiology
Acceso en línea:http://sedici.unlp.edu.ar/handle/10915/128409
Aporte de:
SEDICI (UNLP) de Universidad Nacional de La Plata
id I19-R120-10915-128409
record_format dspace
institution Universidad Nacional de La Plata
institution_str I-19
repository_str R-120
collection SEDICI (UNLP)
language Inglés
topic Biología
Gaucher, bone
Mineral density
Resorption
Pathophysiology
spellingShingle Biología
Gaucher, bone
Mineral density
Resorption
Pathophysiology
Rozenfeld, Paula Adriana
Crivaro, Andrea Natalia
Ormazabal, Maximiliano Emanuel
Mucci, Juan Marcos
Bondar, Constanza María
Delpino, María Victoria
Unraveling the mystery of Gaucher bone density pathophysiology
topic_facet Biología
Gaucher, bone
Mineral density
Resorption
Pathophysiology
description 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.
format Articulo
Preprint
author Rozenfeld, Paula Adriana
Crivaro, Andrea Natalia
Ormazabal, Maximiliano Emanuel
Mucci, Juan Marcos
Bondar, Constanza María
Delpino, María Victoria
author_facet Rozenfeld, Paula Adriana
Crivaro, Andrea Natalia
Ormazabal, Maximiliano Emanuel
Mucci, Juan Marcos
Bondar, Constanza María
Delpino, María Victoria
author_sort Rozenfeld, Paula Adriana
title Unraveling the mystery of Gaucher bone density pathophysiology
title_short Unraveling the mystery of Gaucher bone density pathophysiology
title_full Unraveling the mystery of Gaucher bone density pathophysiology
title_fullStr Unraveling the mystery of Gaucher bone density pathophysiology
title_full_unstemmed Unraveling the mystery of Gaucher bone density pathophysiology
title_sort unraveling the mystery of gaucher bone density pathophysiology
publishDate 2021
url http://sedici.unlp.edu.ar/handle/10915/128409
work_keys_str_mv AT rozenfeldpaulaadriana unravelingthemysteryofgaucherbonedensitypathophysiology
AT crivaroandreanatalia unravelingthemysteryofgaucherbonedensitypathophysiology
AT ormazabalmaximilianoemanuel unravelingthemysteryofgaucherbonedensitypathophysiology
AT muccijuanmarcos unravelingthemysteryofgaucherbonedensitypathophysiology
AT bondarconstanzamaria unravelingthemysteryofgaucherbonedensitypathophysiology
AT delpinomariavictoria unravelingthemysteryofgaucherbonedensitypathophysiology
bdutipo_str Repositorios
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