Non-Invasive biomarkers for duchenne muscular dystrophy and carrier detection

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

Research output: Contribution to journalArticlepeer-review

37 Scopus citations

Abstract

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.

Original languageEnglish
Pages (from-to)11154-11172
Number of pages19
JournalMolecules
Volume20
Issue number6
DOIs
StatePublished - 1 Jun 2015

Keywords

  • Biomarkers
  • Duchenne
  • FSTN
  • GDF-8
  • MMP-2
  • MMP-9
  • Monitoring
  • TIMP-1

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