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Table 1: miRNAs and circRNAs deregulated in DM1.
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Sample
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Reporter changes
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Method
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Comments
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References
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Human muscle biopsies from the vastus lateralis
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Up: miR-206
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RT-qPCR
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Seven unrelated patients,
aged 30-50 years
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Gambardella, et al. (2010)61
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Human muscle biopsies from the vastus lateralis
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Up: miR-206
Down: miR-1, miR-133a, miR-133b
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RT-qPCR
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Twelve unrelated patients,
aged 19-52 years
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Fritegotto, et al. (2017)22
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|
Human muscle biopsies from biceps
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Up: miR-1, miR-335
Down: miR-29b, miR-29c, miR-33
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RT-qPCR
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Fifteen unrelated patients, aged
38 ± 17 years
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Perbellini, et al. (2011)20
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|
Serum
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Up: miR-1, miR-133a, miR-133b, miR-206
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RT-qPCR
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Twenty-three patients
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Koutsoulidou, et al. (2015)23
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|
Plasma (validation)
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Up: miR-1, miR-133a, miR-133b, miR-206, miR-140-3p, miR-574, miR-454
Down: miR-27b
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RT-qPCR
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One hundred three patients, aged
44.1 ± 1.3 years
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Perfetti, et al. (2016)39
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Serum (validation)
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None (validation)
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RT-qPCR
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Twenty-six patients,
aged 26-61 years
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Fernández-Costa, et al. (2016)40
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|
Drosophila i(CTG)480 transgenic line
Human skeletal muscle biopsies (biceps, vastus and deltoid)
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Up: one miRNA
Down: nineteen miRNAs
Down: miR-1, miR-7, miR-10a
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SOLiDTM 3 sequencing
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Deregulation of miR-1, miR-7 (given their conservation in humans)
Five patients,
aged 47 ± 5 years
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Fernández-Costa, et al. (2013)13
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Mouse model (EpA960; MCM)
Human heart tissues
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Postnatal down: miR-23a, miR-23b
Deregulated: 54 miRNAs
Down: twenty miRNAs
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RT-qPCR
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Eight patients,
aged 26-55 years
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Kalsotra, et al. (2014)12
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|
Human heart left ventricles samples
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Down: miR-1
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RT-qPCR
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Eight adults
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Rau, et al. (2011)14
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Human muscle biopsies from the biceps brachii
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Up: miR-208a, miR-381
Down: miR-193b-3p
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Gene chip human exon 1.0 ST array (Affymetrix)
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miRNAs validated in DM2 were also tested in an age-and sex-matched cohort of DM1 patients
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Greco, et al. (2012)62
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Myoblast cell lines, muscle biopsy and samples from the HSALR transgenic mouse model
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Increase of circRNAs level
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Next generation sequencing
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Human cell lines three DM1 and controls. Human muscle biopsies five DM1 and six controls. Mouse muscles ten DM1 and ten controls
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Czubak, et al. (2019)59
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|
Muscle tissue biopsies, myogenic cell lines
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Increased circular fraction: CDYL, HPK3, RTN4_03 and ZNF609
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RNA seq
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Muscle tissue biopsies from biceps brachii of 30 DM1 and 29 sex- and age-matched control individuals
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Voellenkle, et al. (2019)60
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Inducible glial cell model (MIO-M1-CTG(648) cells)
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111 deregulated genes; 9.1% of ncRNAS
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Clariom D Arrays for human samples
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Four experimental groups, 3 biological replicates
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Azotla-Vilchis CN, et al. (2021)42
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