Cardiomyopathy and response to enzyme replacement therapy in a male mouse model for Fabry disease.

Fabry disease is an X-linked disorder of glycosphingolipid metabolism that results in progressive accumulation of neutral glycosphingolipids, (predominately globotriaosylceramide; GL-3) in lysosomes, as well as other cellular compartments and the extracellular space. Our aim was to characterize the...

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Autores principales:	Aurelie Nguyen Dinh Cat, Brigitte Escoubet, Vincent Agrapart, Violaine Griol-Charhbili, Trenton Schoeb, Wenguang Feng, Edgar Jaimes, David G Warnock, Frederic Jaisser
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2012
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/bea0ae7dd6704052befae85e8921d938
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spelling	oai:doaj.org-article:bea0ae7dd6704052befae85e8921d9382021-11-18T07:19:45ZCardiomyopathy and response to enzyme replacement therapy in a male mouse model for Fabry disease.1932-620310.1371/journal.pone.0033743https://doaj.org/article/bea0ae7dd6704052befae85e8921d9382012-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/22574107/?tool=EBIhttps://doaj.org/toc/1932-6203Fabry disease is an X-linked disorder of glycosphingolipid metabolism that results in progressive accumulation of neutral glycosphingolipids, (predominately globotriaosylceramide; GL-3) in lysosomes, as well as other cellular compartments and the extracellular space. Our aim was to characterize the cardiac phenotype of male knock-out mice that are deficient in alpha-galactosidase A activity, as a model for Fabry disease and test the efficacy of Enzyme Replacement Therapy with agalsidase-beta. Male mice (3-4 months of age) were characterized with awake blood pressure and heart rate measurements, cardiac echocardiography and electrocardiography measurements under light anesthesia, histological studies and molecular studies with real-time polymerase chain reaction. The Fabry knock-out mouse has bradycardia and lower blood pressure than control wild type (CB7BL/6J) mice. In Fabry knock-out mice, the cardiomyopathy associated mild hypertrophy at echography with normal systolic LV function and mild diastolic dysfunction. Premature atrial contractions were more frequent in without conduction defect. Heart weight normalized to tibial length was increased in Fabry knock-out mice. Ascending aorta dilatation was observed. Molecular studies were consistent with early stages of cardiac remodeling. A single dose of agalsidase-beta (3 mg/kg) did not affect the LV hypertrophy, function or heart rate, but did improve the mRNA signals of early cardiac remodeling. In conclusion, the alpha-galactosidase A deficient mice at 3 to 4 months of age have cardiac and vascular alterations similar to that described in early clinical stage of Fabry disease in children and adolescents. Enzyme replacement therapy affects cardiac molecular remodeling after a single dose.Aurelie Nguyen Dinh CatBrigitte EscoubetVincent AgrapartViolaine Griol-CharhbiliTrenton SchoebWenguang FengEdgar JaimesDavid G WarnockFrederic JaisserPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 7, Iss 5, p e33743 (2012)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Aurelie Nguyen Dinh Cat Brigitte Escoubet Vincent Agrapart Violaine Griol-Charhbili Trenton Schoeb Wenguang Feng Edgar Jaimes David G Warnock Frederic Jaisser Cardiomyopathy and response to enzyme replacement therapy in a male mouse model for Fabry disease.
description	Fabry disease is an X-linked disorder of glycosphingolipid metabolism that results in progressive accumulation of neutral glycosphingolipids, (predominately globotriaosylceramide; GL-3) in lysosomes, as well as other cellular compartments and the extracellular space. Our aim was to characterize the cardiac phenotype of male knock-out mice that are deficient in alpha-galactosidase A activity, as a model for Fabry disease and test the efficacy of Enzyme Replacement Therapy with agalsidase-beta. Male mice (3-4 months of age) were characterized with awake blood pressure and heart rate measurements, cardiac echocardiography and electrocardiography measurements under light anesthesia, histological studies and molecular studies with real-time polymerase chain reaction. The Fabry knock-out mouse has bradycardia and lower blood pressure than control wild type (CB7BL/6J) mice. In Fabry knock-out mice, the cardiomyopathy associated mild hypertrophy at echography with normal systolic LV function and mild diastolic dysfunction. Premature atrial contractions were more frequent in without conduction defect. Heart weight normalized to tibial length was increased in Fabry knock-out mice. Ascending aorta dilatation was observed. Molecular studies were consistent with early stages of cardiac remodeling. A single dose of agalsidase-beta (3 mg/kg) did not affect the LV hypertrophy, function or heart rate, but did improve the mRNA signals of early cardiac remodeling. In conclusion, the alpha-galactosidase A deficient mice at 3 to 4 months of age have cardiac and vascular alterations similar to that described in early clinical stage of Fabry disease in children and adolescents. Enzyme replacement therapy affects cardiac molecular remodeling after a single dose.
format	article
author	Aurelie Nguyen Dinh Cat Brigitte Escoubet Vincent Agrapart Violaine Griol-Charhbili Trenton Schoeb Wenguang Feng Edgar Jaimes David G Warnock Frederic Jaisser
author_facet	Aurelie Nguyen Dinh Cat Brigitte Escoubet Vincent Agrapart Violaine Griol-Charhbili Trenton Schoeb Wenguang Feng Edgar Jaimes David G Warnock Frederic Jaisser
author_sort	Aurelie Nguyen Dinh Cat
title	Cardiomyopathy and response to enzyme replacement therapy in a male mouse model for Fabry disease.
title_short	Cardiomyopathy and response to enzyme replacement therapy in a male mouse model for Fabry disease.
title_full	Cardiomyopathy and response to enzyme replacement therapy in a male mouse model for Fabry disease.
title_fullStr	Cardiomyopathy and response to enzyme replacement therapy in a male mouse model for Fabry disease.
title_full_unstemmed	Cardiomyopathy and response to enzyme replacement therapy in a male mouse model for Fabry disease.
title_sort	cardiomyopathy and response to enzyme replacement therapy in a male mouse model for fabry disease.
publisher	Public Library of Science (PLoS)
publishDate	2012
url	https://doaj.org/article/bea0ae7dd6704052befae85e8921d938
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Cardiomyopathy and response to enzyme replacement therapy in a male mouse model for Fabry disease.

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