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

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 soma...

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Bibliographic Details
Published in:PloS one 2016-02, Vol.11 (2), p.e0150501-e0150501
Main Authors: Fernandez-Costa, Juan M, Llamusi, Beatriz, Bargiela, Ariadna, Zulaica, Miren, Alvarez-Abril, M Carmen, Perez-Alonso, Manuel, Lopez de Munain, Adolfo, Lopez-Castel, Arturo, Artero, Ruben
Format: Article
Language:English
Subjects:
Adult
Autosomal dominant inheritance
Biology and life sciences
Biomarkers
Blotting, Southern
Cancer
Defects
Development and progression
Diagnosis
DMPK protein
Dystrophy
Gene expression
Gene Expression Profiling
Genetic aspects
Genetic markers
Genetics
Genomes
Genomics
Heart
Heart diseases
Humans
Insulin resistance
Kinases
Male
Medical research
Medicine and Health Sciences
MicroRNA
MicroRNAs
MicroRNAs - blood
Middle Aged
Muscular dystrophy
Musculoskeletal system
Myotonic dystrophy
Myotonic Dystrophy - blood
Myotonic Dystrophy - genetics
Neurosciences
Patients
Physiological aspects
Proteins
Research and Analysis Methods
Tissues
Trinucleotide repeat diseases
Trinucleotide Repeats
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Summary: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.
ISSN:1932-6203
1932-6203
DOI:10.1371/journal.pone.0150501