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