Cell surface and gene expression regulation molecules in dystrophinopathy: mdx vs. Duchenne

Duchenne muscular dystrophy (DMD) is secondary to loss-of-function mutations in the dystrophin gene. The causes underlying the progression of DMD, differential muscle involvement, and the discrepancies in phenotypes among species with the same genetic defect are not understood. The mdx mouse, an ani...

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Autor principal:	FADIC,RICARDO
Lenguaje:	English
Publicado:	Sociedad de Biología de Chile 2005
Materias:	dystrophinopathy signaling molecules Duchenne muscular dystrophy
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602005000400010
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spelling	oai:scielo:S0716-976020050004000102006-04-18Cell surface and gene expression regulation molecules in dystrophinopathy: mdx vs. DuchenneFADIC,RICARDO dystrophinopathy signaling molecules Duchenne muscular dystrophy Duchenne muscular dystrophy (DMD) is secondary to loss-of-function mutations in the dystrophin gene. The causes underlying the progression of DMD, differential muscle involvement, and the discrepancies in phenotypes among species with the same genetic defect are not understood. The mdx mouse, an animal model with dystrophin mutation, has a milder phenotype. This article reviews the available information on expression of signaling-related molecules in DMD and mdx. Extracellular matrix proteoglycans, growth factors, integrins, caveolin-3, and neuronal nitric oxide synthase expression do not show significant differences. Calcineurin is inconsistently activated in mdx, which is associated with lack of cardiomyopathy, compared to the permanent calcineurin activation in mdx/utrophin null mice that have a DMD-like cardiomyopathy. Levels of focal adhesion kinase (FAK) and extracellular regulated kinases (ERKs) differ among mdx and DMD. Further work is needed to identify the point of discrepancy in these signaling molecules' pathways in dystrophynopathies.info:eu-repo/semantics/openAccessSociedad de Biología de ChileBiological Research v.38 n.4 20052005-01-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602005000400010en10.4067/S0716-97602005000400010
institution	Scielo Chile
collection	Scielo Chile
language	English
topic	dystrophinopathy signaling molecules Duchenne muscular dystrophy
spellingShingle	dystrophinopathy signaling molecules Duchenne muscular dystrophy FADIC,RICARDO Cell surface and gene expression regulation molecules in dystrophinopathy: mdx vs. Duchenne
description	Duchenne muscular dystrophy (DMD) is secondary to loss-of-function mutations in the dystrophin gene. The causes underlying the progression of DMD, differential muscle involvement, and the discrepancies in phenotypes among species with the same genetic defect are not understood. The mdx mouse, an animal model with dystrophin mutation, has a milder phenotype. This article reviews the available information on expression of signaling-related molecules in DMD and mdx. Extracellular matrix proteoglycans, growth factors, integrins, caveolin-3, and neuronal nitric oxide synthase expression do not show significant differences. Calcineurin is inconsistently activated in mdx, which is associated with lack of cardiomyopathy, compared to the permanent calcineurin activation in mdx/utrophin null mice that have a DMD-like cardiomyopathy. Levels of focal adhesion kinase (FAK) and extracellular regulated kinases (ERKs) differ among mdx and DMD. Further work is needed to identify the point of discrepancy in these signaling molecules' pathways in dystrophynopathies.
author	FADIC,RICARDO
author_facet	FADIC,RICARDO
author_sort	FADIC,RICARDO
title	Cell surface and gene expression regulation molecules in dystrophinopathy: mdx vs. Duchenne
title_short	Cell surface and gene expression regulation molecules in dystrophinopathy: mdx vs. Duchenne
title_full	Cell surface and gene expression regulation molecules in dystrophinopathy: mdx vs. Duchenne
title_fullStr	Cell surface and gene expression regulation molecules in dystrophinopathy: mdx vs. Duchenne
title_full_unstemmed	Cell surface and gene expression regulation molecules in dystrophinopathy: mdx vs. Duchenne
title_sort	cell surface and gene expression regulation molecules in dystrophinopathy: mdx vs. duchenne
publisher	Sociedad de Biología de Chile
publishDate	2005
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602005000400010
work_keys_str_mv	AT fadicricardo cellsurfaceandgeneexpressionregulationmoleculesindystrophinopathymdxvsduchenne
_version_	1718441392749936640

Cell surface and gene expression regulation molecules in dystrophinopathy: mdx vs. Duchenne

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