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 weak...
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doaj-f066c3f1d16c412e8191efad4d2d26c02020-11-24T23:53:50ZengMDPI AGMolecules1420-30492015-06-01206111541117210.3390/molecules200611154molecules200611154Non-Invasive Biomarkers for Duchenne Muscular Dystrophy and Carrier DetectionMónica Alejandra Anaya-Segura0Froylan Arturo García-Martínez1Luis Ángel Montes-Almanza2Benjamín-Gómez Díaz3Guillermina Ávila-Ramírez4Ikuri Alvarez-Maya5Ramón Mauricio Coral-Vázquez6Paul Mondragón-Terán7Rosa Elena Escobar-Cedillo8Noemí García-Calderón9Norma Alejandra Vázquez-Cardenas10Silvia García11Luz Berenice López-Hernández12Research Center in Technology and Design Assistance of Jalisco State (CIATEJ, AC), National Council of Science and Technology (CONACYT), Guadalajara 44270, MexicoNational Medical Centre “20 de Noviembre”, Institute for Social Security of State Workers, Mexico City 03100, MexicoNational Medical Centre “20 de Noviembre”, Institute for Social Security of State Workers, Mexico City 03100, MexicoNational Institute of Rehabilitation, Mexico City 14389, MexicoFaculty of Medicine, National Autonomous University of Mexico, Mexico City 04510, MexicoResearch Center in Technology and Design Assistance of Jalisco State (CIATEJ, AC), National Council of Science and Technology (CONACYT), Guadalajara 44270, MexicoStudies Section of Postgraduate and Research, School of Medicine, National Polytechnic Institute, Mexico City 11340, MexicoNational Medical Centre “20 de Noviembre”, Institute for Social Security of State Workers, Mexico City 03100, MexicoNational Institute of Rehabilitation, Mexico City 14389, MexicoAsociación de Distrofia Muscular de Occidente A.C., Guadalajara 44380, MexicoFaculty of Medicine, Autonomous University of Guadalajara, Guadalajara 45129, MexicoNational Medical Centre “20 de Noviembre”, Institute for Social Security of State Workers, Mexico City 03100, MexicoNational Medical Centre “20 de Noviembre”, Institute for Social Security of State Workers, Mexico City 03100, MexicoNon-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.http://www.mdpi.com/1420-3049/20/6/11154biomarkersDuchennemonitoringMMP-9MMP-2TIMP-1GDF-8FSTN |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Mónica Alejandra Anaya-Segura Froylan Arturo García-Martínez Luis Ángel Montes-Almanza Benjamín-Gómez Díaz Guillermina Ávila-Ramírez Ikuri Alvarez-Maya Ramón Mauricio Coral-Vázquez Paul Mondragón-Terán Rosa Elena Escobar-Cedillo Noemí García-Calderón Norma Alejandra Vázquez-Cardenas Silvia García Luz Berenice López-Hernández |
spellingShingle |
Mónica Alejandra Anaya-Segura Froylan Arturo García-Martínez Luis Ángel Montes-Almanza Benjamín-Gómez Díaz Guillermina Ávila-Ramírez Ikuri Alvarez-Maya Ramón Mauricio Coral-Vázquez Paul Mondragón-Terán Rosa Elena Escobar-Cedillo Noemí García-Calderón Norma Alejandra Vázquez-Cardenas Silvia García Luz Berenice López-Hernández Non-Invasive Biomarkers for Duchenne Muscular Dystrophy and Carrier Detection Molecules biomarkers Duchenne monitoring MMP-9 MMP-2 TIMP-1 GDF-8 FSTN |
author_facet |
Mónica Alejandra Anaya-Segura Froylan Arturo García-Martínez Luis Ángel Montes-Almanza Benjamín-Gómez Díaz Guillermina Ávila-Ramírez Ikuri Alvarez-Maya Ramón Mauricio Coral-Vázquez Paul Mondragón-Terán Rosa Elena Escobar-Cedillo Noemí García-Calderón Norma Alejandra Vázquez-Cardenas Silvia García Luz Berenice López-Hernández |
author_sort |
Mónica Alejandra Anaya-Segura |
title |
Non-Invasive Biomarkers for Duchenne Muscular Dystrophy and Carrier Detection |
title_short |
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_sort |
non-invasive biomarkers for duchenne muscular dystrophy and carrier detection |
publisher |
MDPI AG |
series |
Molecules |
issn |
1420-3049 |
publishDate |
2015-06-01 |
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. |
topic |
biomarkers Duchenne monitoring MMP-9 MMP-2 TIMP-1 GDF-8 FSTN |
url |
http://www.mdpi.com/1420-3049/20/6/11154 |
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