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.
Highlights
Myotonic dystrophy type 1 (DM1) can appear at any time in life and is regarded as the human disease which probably has the most variable clinical presentation, somehow affecting virtually all body systems [1]
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 dystrophia myotonica-protein kinase (DMPK) gene
[21, 22, 23, 24, 35], and there are numerous drugs that work in DM1 animal models pending accurate pharmacological development and clinical testing in humans [36, 37, 38, 39], we explored the possibility that misexpression of specific serum miRNAs could be identified as non-invasive DM1 biomarkers
Summary
Myotonic dystrophy type 1 (DM1) can appear at any time in life and is regarded as the human disease which probably has the most variable clinical presentation, somehow affecting virtually all body systems [1]. Typically classified as a neuromuscular disease, besides its prominent muscular system defects (including cardiac, smooth, and skeletal muscle cell types), it compromises cognitive, ocular, digestive, endocrine, respiratory, reproductive, cutaneous, haematopoietic, and immune systems to varying degrees [2]. Characteristic muscular symptoms include cardiac problems such as malignant arrhythmias and conduction defects, and involvement of facial (ptosis), bulbar (dysarthria, dysphagia), limb (steppage, gait troubles), and smooth (constipation) muscle with associated muscular atrophy and myotonia [1, 3, 4]. Patients suffer from iridescent cataracts and insulin resistance with metabolic syndrome. It is an autosomal dominant disease caused by unstable expansion of the CTG.
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