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Non-Invasive Biomarkers for Duchenne Muscular Dystrophy and Carrier Detection

Non-invasive biological indicators of the absence/presence or progress of the disease that could be used to support diagnosis and to evaluate the effectiveness of treatment are of utmost importance in Duchenne Muscular Dystrophy (DMD). This neuromuscular disorder affects male children, causing weakn...

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Autores principales: Anaya-Segura, Mónica Alejandra, García-Martínez, Froylan Arturo, Montes-Almanza, Luis Ángel, Díaz, Benjamín-Gómez, Ávila-Ramírez, Guillermina, Alvarez-Maya, Ikuri, Coral-Vázquez, Ramón Mauricio, Mondragón-Terán, Paul, Escobar-Cedillo, Rosa Elena, García-Calderón, Noemí, Vázquez-Cardenas, Norma Alejandra, García, Silvia, López-Hernández, Luz Berenice
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6272409/
https://www.ncbi.nlm.nih.gov/pubmed/26091074
http://dx.doi.org/10.3390/molecules200611154
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author Anaya-Segura, Mónica Alejandra
García-Martínez, Froylan Arturo
Montes-Almanza, Luis Ángel
Díaz, Benjamín-Gómez
Ávila-Ramírez, Guillermina
Alvarez-Maya, Ikuri
Coral-Vázquez, Ramón Mauricio
Mondragón-Terán, Paul
Escobar-Cedillo, Rosa Elena
García-Calderón, Noemí
Vázquez-Cardenas, Norma Alejandra
García, Silvia
López-Hernández, Luz Berenice
author_facet Anaya-Segura, Mónica Alejandra
García-Martínez, Froylan Arturo
Montes-Almanza, Luis Ángel
Díaz, Benjamín-Gómez
Ávila-Ramírez, Guillermina
Alvarez-Maya, Ikuri
Coral-Vázquez, Ramón Mauricio
Mondragón-Terán, Paul
Escobar-Cedillo, Rosa Elena
García-Calderón, Noemí
Vázquez-Cardenas, Norma Alejandra
García, Silvia
López-Hernández, Luz Berenice
author_sort Anaya-Segura, Mónica Alejandra
collection PubMed
description Non-invasive biological indicators of the absence/presence or progress of the disease that could be used to support diagnosis and to evaluate the effectiveness of treatment are of utmost importance in Duchenne Muscular Dystrophy (DMD). This neuromuscular disorder affects male children, causing weakness and disability, whereas female relatives are at risk of being carriers of the disease. A biomarker with both high sensitivity and specificity for accurate prediction is preferred. Until now creatine kinase (CK) levels have been used for DMD diagnosis but these fail to assess disease progression. Herein we examined the potential applicability of serum levels of matrix metalloproteinase 9 (MMP-9) and matrix metalloproteinase 2 (MMP-2), tissue inhibitor of metalloproteinases 1 (TIMP-1), myostatin (GDF-8) and follistatin (FSTN) as non-invasive biomarkers to distinguish between DMD steroid naïve patients and healthy controls of similar age and also for carrier detection. Our data suggest that serum levels of MMP-9, GDF-8 and FSTN are useful to discriminate DMD from controls (p < 0.05), to correlate with some neuromuscular assessments for DMD, and also to differentiate between Becker muscular dystrophy (BMD) and Limb-girdle muscular dystrophy (LGMD) patients. In DMD individuals under steroid treatment, GDF-8 levels increased as FSTN levels decreased, resembling the proportions of these proteins in healthy controls and also the baseline ratio of patients without steroids. GDF-8 and FSTN serum levels were also useful for carrier detection (p < 0.05). Longitudinal studies with larger cohorts are necessary to confirm that these molecules correlate with disease progression. The biomarkers presented herein could potentially outperform CK levels for carrier detection and also harbor potential for monitoring disease progression.
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spelling pubmed-62724092018-12-31 Non-Invasive Biomarkers for Duchenne Muscular Dystrophy and Carrier Detection Anaya-Segura, Mónica Alejandra García-Martínez, Froylan Arturo Montes-Almanza, Luis Ángel Díaz, Benjamín-Gómez Ávila-Ramírez, Guillermina Alvarez-Maya, Ikuri Coral-Vázquez, Ramón Mauricio Mondragón-Terán, Paul Escobar-Cedillo, Rosa Elena García-Calderón, Noemí Vázquez-Cardenas, Norma Alejandra García, Silvia López-Hernández, Luz Berenice Molecules Article Non-invasive biological indicators of the absence/presence or progress of the disease that could be used to support diagnosis and to evaluate the effectiveness of treatment are of utmost importance in Duchenne Muscular Dystrophy (DMD). This neuromuscular disorder affects male children, causing weakness and disability, whereas female relatives are at risk of being carriers of the disease. A biomarker with both high sensitivity and specificity for accurate prediction is preferred. Until now creatine kinase (CK) levels have been used for DMD diagnosis but these fail to assess disease progression. Herein we examined the potential applicability of serum levels of matrix metalloproteinase 9 (MMP-9) and matrix metalloproteinase 2 (MMP-2), tissue inhibitor of metalloproteinases 1 (TIMP-1), myostatin (GDF-8) and follistatin (FSTN) as non-invasive biomarkers to distinguish between DMD steroid naïve patients and healthy controls of similar age and also for carrier detection. Our data suggest that serum levels of MMP-9, GDF-8 and FSTN are useful to discriminate DMD from controls (p < 0.05), to correlate with some neuromuscular assessments for DMD, and also to differentiate between Becker muscular dystrophy (BMD) and Limb-girdle muscular dystrophy (LGMD) patients. In DMD individuals under steroid treatment, GDF-8 levels increased as FSTN levels decreased, resembling the proportions of these proteins in healthy controls and also the baseline ratio of patients without steroids. GDF-8 and FSTN serum levels were also useful for carrier detection (p < 0.05). Longitudinal studies with larger cohorts are necessary to confirm that these molecules correlate with disease progression. The biomarkers presented herein could potentially outperform CK levels for carrier detection and also harbor potential for monitoring disease progression. MDPI 2015-06-17 /pmc/articles/PMC6272409/ /pubmed/26091074 http://dx.doi.org/10.3390/molecules200611154 Text en © 2015 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Anaya-Segura, Mónica Alejandra
García-Martínez, Froylan Arturo
Montes-Almanza, Luis Ángel
Díaz, Benjamín-Gómez
Ávila-Ramírez, Guillermina
Alvarez-Maya, Ikuri
Coral-Vázquez, Ramón Mauricio
Mondragón-Terán, Paul
Escobar-Cedillo, Rosa Elena
García-Calderón, Noemí
Vázquez-Cardenas, Norma Alejandra
García, Silvia
López-Hernández, Luz Berenice
Non-Invasive Biomarkers for Duchenne Muscular Dystrophy and Carrier Detection
title Non-Invasive Biomarkers for Duchenne Muscular Dystrophy and Carrier Detection
title_full Non-Invasive Biomarkers for Duchenne Muscular Dystrophy and Carrier Detection
title_fullStr Non-Invasive Biomarkers for Duchenne Muscular Dystrophy and Carrier Detection
title_full_unstemmed Non-Invasive Biomarkers for Duchenne Muscular Dystrophy and Carrier Detection
title_short Non-Invasive Biomarkers for Duchenne Muscular Dystrophy and Carrier Detection
title_sort non-invasive biomarkers for duchenne muscular dystrophy and carrier detection
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6272409/
https://www.ncbi.nlm.nih.gov/pubmed/26091074
http://dx.doi.org/10.3390/molecules200611154
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