PLoS ONE (Jan 2016)

Six Serum miRNAs Fail to Validate as Myotonic Dystrophy Type 1 Biomarkers.

  • Juan M Fernandez-Costa,
  • Beatriz Llamusi,
  • Ariadna Bargiela,
  • Miren Zulaica,
  • M Carmen Alvarez-Abril,
  • Manuel Perez-Alonso,
  • Adolfo Lopez de Munain,
  • Arturo Lopez-Castel,
  • Ruben Artero

DOI
https://doi.org/10.1371/journal.pone.0150501
Journal volume & issue
Vol. 11, no. 2
p. e0150501

Abstract

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Myotonic dystrophy type 1 (DM1) is an autosomal dominant genetic disease caused by expansion of a CTG microsatellite in the 3' untranslated region of the DMPK gene. Despite characteristic muscular, cardiac, and neuropsychological symptoms, CTG trinucleotide repeats are unstable both in the somatic and germinal lines, making the age of onset, clinical presentation, and disease severity very variable. A molecular biomarker to stratify patients and to follow disease progression is, thus, an unmet medical need. Looking for a novel biomarker, and given that specific miRNAs have been found to be misregulated in DM1 heart and muscle tissues, we profiled the expression of 175 known serum miRNAs in DM1 samples. The differences detected between patients and controls were less than 2.6 fold for all of them and a selection of six candidate miRNAs, miR-103, miR-107, miR-21, miR-29a, miR-30c, and miR-652 all failed to show consistent differences in serum expression in subsequent validation experiments.