Six serum miRNAs fail to validate as myotonic dystrophy type 1 biomarkers

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Abstract

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.

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Fernandez-Costa, J. M., Llamusi, B., Bargiela, A., Zulaica, M., Alvarez-Abril, M. C., Perez-Alonso, M., … Artero, R. (2016). Six serum miRNAs fail to validate as myotonic dystrophy type 1 biomarkers. PLoS ONE, 11(2). https://doi.org/10.1371/journal.pone.0150501

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