Muscle Microdialysis to Investigate Inflammatory Biomarkers in Facioscapulohumeral Muscular Dystrophy

Giorgio Tasca, Mauro Monforte, Maddalena Corbi, Giuseppe Granata, Donatella Lucchetti, Alessandro Sgambato, Enzo Ricci

Research output: Contribution to journalArticlepeer-review


Recent progresses in the understanding of facioscapulohumeral muscular dystrophy (FSHD) genetics opened the way to the development of targeted therapies. However, knowledge about pathophysiology of muscle damage is still limited and there is increasing need to identify biomarkers of disease activity in the perspective of clinical trial readiness. We analyzed inflammatory mediators in the interstitial fluid of muscles with different MRI signal in FSHD patients, comparing muscles displaying early lesions on short-tau inversion recovery (STIR) sequences with normal ones. Patients with one T1-weighted normal and STIR hyperintense (STIR+) and contralateral T1-weighted and STIR normal (STIR-) lower limb muscle were asked to enter the study. Twelve consecutive patients, five controls, and one non-penetrant gene carrier underwent prolonged muscle microdialysis with high cut-off membranes. Microdialysates were analyzed using xMAP technology with a wide panel for cytokines, chemokines, and growth factors. A small number of inflammatory mediators were dysregulated in STIR+ versus STIR- and control muscles: CXCL13, upregulated in STIR+ muscles compared with controls (p OpenSPiltSPi 0.01); CXCL5, downregulated in STIR+ compared with STIR- muscles (p OpenSPiltSPi 0.05); and G-CSF, downregulated in STIR+ muscles compared with controls (p OpenSPiltSPi 0.05). CXCL13 was also upregulated in the STIR+ muscles compared with the contralateral STIR- muscles of the same patient (p OpenSPiltSPi 0.01). These results support the evidence of a selective inflammatory process taking place in STIR+ FSHD muscles. The application of microdialysis could provide insights on novel mechanisms involved in muscle damage in FSHD and in other myopathies. Further studies are needed to validate these investigated molecules as tissue and circulating biomarkers.

Original languageEnglish
Pages (from-to)2959-2966
Number of pages8
JournalMolecular Neurobiology
Issue number4
Publication statusPublished - Apr 1 2018


  • Biomarkers
  • CXCL13
  • Cytokines
  • Facioscapulohumeral muscular dystrophy
  • FSHD
  • Microdialysis

ASJC Scopus subject areas

  • Neuroscience (miscellaneous)
  • Neurology
  • Cellular and Molecular Neuroscience


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