Examining the impact of bone pathology on type I Gaucher disease

Gaucher disease (GD) is an autosomal recessively inherited lysosomal disorder caused by mutations in GBA gene leading to deficient activity of the lysosomal enzyme acid β-glucocerebrosidase. Phenotipically, 3 different forms can be distinguished, being type I Gaucher disease the most frequent one, a...

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Detalles Bibliográficos
Autores: Mucci, Juan Marcos, Rozenfeld, Paula Adriana
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2014
País:Argentina
Institución:Consejo Nacional de Investigaciones Científicas y Técnicas
Repositorio:CONICET Digital (CONICET)
Idioma:inglés
OAI Identifier:oai:ri.conicet.gov.ar:11336/31421
Acceso en línea:http://hdl.handle.net/11336/31421
Access Level:acceso abierto
Palabra clave:Gaucher Disease
Bone Pathology
Glucocerebrosidase
Osteoimmunology
https://purl.org/becyt/ford/3.1
https://purl.org/becyt/ford/3
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spelling Examining the impact of bone pathology on type I Gaucher diseaseMucci, Juan MarcosRozenfeld, Paula AdrianaGaucher DiseaseBone PathologyGlucocerebrosidaseOsteoimmunologyhttps://purl.org/becyt/ford/3.1https://purl.org/becyt/ford/3Gaucher disease (GD) is an autosomal recessively inherited lysosomal disorder caused by mutations in GBA gene leading to deficient activity of the lysosomal enzyme acid β-glucocerebrosidase. Phenotipically, 3 different forms can be distinguished, being type I Gaucher disease the most frequent one, and characterized by the absence of involvement of the central nervous system. Affected organs are the spleen, liver, bone marrow and bone and, in severe cases, also the lung and kidney. Bone manifestations include bone pain, bone crises, osteopenia, osteoporosis, avascular necrosis and pathological fractures. Nowadays, skeletal alterations are the major cause of morbidity for patients, and a major concern for physicians who treat them, because of variable grade of response and refractoriness of bone pathology to treatment. Pathological mechanisms of bone alterations in GD are still poorly understood. Advances are being achieved in the knowledge of cellular and molecular mechanisms; by means of handle these studies in the field of osteoimmunology. GD as well as other lysosomal disorders is associated to a chronic stimulation of immune system, specially the innate arm. Cellular alteration produces a proinflammatory milieu leading to enhancement of the activity of osteoclasts, the main degradative/resorptive cell of bone. This article focuses on the details of bone alterations, effect of therapies on skeletal pathology, and our current state of knowledge of the complex pathophisiology of this orphan diseaseFil: Mucci, Juan Marcos. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Rozenfeld, Paula Adriana. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaTaylor & Francis2014info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/31421Mucci, Juan Marcos; Rozenfeld, Paula Adriana; Examining the impact of bone pathology on type I Gaucher disease; Taylor & Francis; Clinical Lipidology; 9; 1; 2014; 61-701758-4299CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/http://www.tandfonline.com/doi/abs/10.2217/clp.13.78info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2024-05-08T13:58:47Zoai:ri.conicet.gov.ar:11336/31421instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982024-05-08 13:58:47.252CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Examining the impact of bone pathology on type I Gaucher disease
title Examining the impact of bone pathology on type I Gaucher disease
spellingShingle Examining the impact of bone pathology on type I Gaucher disease
Mucci, Juan Marcos
Gaucher Disease
Bone Pathology
Glucocerebrosidase
Osteoimmunology
https://purl.org/becyt/ford/3.1
https://purl.org/becyt/ford/3
title_short Examining the impact of bone pathology on type I Gaucher disease
title_full Examining the impact of bone pathology on type I Gaucher disease
title_fullStr Examining the impact of bone pathology on type I Gaucher disease
title_full_unstemmed Examining the impact of bone pathology on type I Gaucher disease
title_sort Examining the impact of bone pathology on type I Gaucher disease
dc.creator.none.fl_str_mv Mucci, Juan Marcos
Rozenfeld, Paula Adriana
author Mucci, Juan Marcos
author_facet Mucci, Juan Marcos
Rozenfeld, Paula Adriana
author_role author
author2 Rozenfeld, Paula Adriana
author2_role author
dc.subject.none.fl_str_mv Gaucher Disease
Bone Pathology
Glucocerebrosidase
Osteoimmunology
https://purl.org/becyt/ford/3.1
https://purl.org/becyt/ford/3
topic Gaucher Disease
Bone Pathology
Glucocerebrosidase
Osteoimmunology
https://purl.org/becyt/ford/3.1
https://purl.org/becyt/ford/3
description Gaucher disease (GD) is an autosomal recessively inherited lysosomal disorder caused by mutations in GBA gene leading to deficient activity of the lysosomal enzyme acid β-glucocerebrosidase. Phenotipically, 3 different forms can be distinguished, being type I Gaucher disease the most frequent one, and characterized by the absence of involvement of the central nervous system. Affected organs are the spleen, liver, bone marrow and bone and, in severe cases, also the lung and kidney. Bone manifestations include bone pain, bone crises, osteopenia, osteoporosis, avascular necrosis and pathological fractures. Nowadays, skeletal alterations are the major cause of morbidity for patients, and a major concern for physicians who treat them, because of variable grade of response and refractoriness of bone pathology to treatment. Pathological mechanisms of bone alterations in GD are still poorly understood. Advances are being achieved in the knowledge of cellular and molecular mechanisms; by means of handle these studies in the field of osteoimmunology. GD as well as other lysosomal disorders is associated to a chronic stimulation of immune system, specially the innate arm. Cellular alteration produces a proinflammatory milieu leading to enhancement of the activity of osteoclasts, the main degradative/resorptive cell of bone. This article focuses on the details of bone alterations, effect of therapies on skeletal pathology, and our current state of knowledge of the complex pathophisiology of this orphan disease
publishDate 2014
dc.date.none.fl_str_mv 2014
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11336/31421
Mucci, Juan Marcos; Rozenfeld, Paula Adriana; Examining the impact of bone pathology on type I Gaucher disease; Taylor & Francis; Clinical Lipidology; 9; 1; 2014; 61-70
1758-4299
CONICET Digital
CONICET
url http://hdl.handle.net/11336/31421
identifier_str_mv Mucci, Juan Marcos; Rozenfeld, Paula Adriana; Examining the impact of bone pathology on type I Gaucher disease; Taylor & Francis; Clinical Lipidology; 9; 1; 2014; 61-70
1758-4299
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/url/http://www.tandfonline.com/doi/abs/10.2217/clp.13.78
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
application/pdf
dc.publisher.none.fl_str_mv Taylor & Francis
publisher.none.fl_str_mv Taylor & Francis
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
repository.name.fl_str_mv CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
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score 15.812429

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