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Current Understanding of Molecular Pathology and Treatment of Cardiomyopathy in Duchenne Muscular Dystrophy
Open AccessArticle

Non-Invasive Biomarkers for Duchenne Muscular Dystrophy and Carrier Detection

Research Center in Technology and Design Assistance of Jalisco State (CIATEJ, AC), National Council of Science and Technology (CONACYT), Guadalajara 44270, Mexico
National Medical Centre “20 de Noviembre”, Institute for Social Security of State Workers, Mexico City 03100, Mexico
National Institute of Rehabilitation, Mexico City 14389, Mexico
Faculty of Medicine, National Autonomous University of Mexico, Mexico City 04510, Mexico
Studies Section of Postgraduate and Research, School of Medicine, National Polytechnic Institute, Mexico City 11340, Mexico
Asociación de Distrofia Muscular de Occidente A.C., Guadalajara 44380, Mexico
Mexican Institute of Social Security-CMNO, Guadalajara 44340, Mexico
Faculty of Medicine, Autonomous University of Guadalajara, Guadalajara 45129, Mexico
Author to whom correspondence should be addressed.
These authors contributed equally to this work.
Academic Editor: Leonidas A. Phylactou
Molecules 2015, 20(6), 11154-11172;
Received: 28 February 2015 / Revised: 2 June 2015 / Accepted: 8 June 2015 / Published: 17 June 2015
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. View Full-Text
Keywords: biomarkers; Duchenne; monitoring; MMP-9; MMP-2; TIMP-1; GDF-8; FSTN biomarkers; Duchenne; monitoring; MMP-9; MMP-2; TIMP-1; GDF-8; FSTN
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Anaya-Segura, M.A.; García-Martínez, F.A.; Montes-Almanza, L.Á.; Díaz, B.-G.; Ávila-Ramírez, G.; Alvarez-Maya, I.; Coral-Vázquez, R.M.; Mondragón-Terán, P.; Escobar-Cedillo, R.E.; García-Calderón, N.; Vázquez-Cardenas, N.A.; García, S.; López-Hernández, L.B. Non-Invasive Biomarkers for Duchenne Muscular Dystrophy and Carrier Detection. Molecules 2015, 20, 11154-11172.

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