Table 2.
Discovery of 19 circulating miRNAs with altered expression in mild or severe FSHD.
| Mild FSHD Versus Healthy Controls | ||||
|---|---|---|---|---|
| miRNA | ↑ or ↓ | p-Value | Rq * | Known Roles in Muscle/Disease Pathways |
| 138 | ↓ | 0.004 | 0.05 | Heart development; hypoxia and S100A1 [54,55,56] |
| 486 | ↓ | 0.009 | 0.26 | myomiR; steroid-response in IBD blood [35,53] |
| 9 | ↑ | 0.017 | 9.58 | Inhibits satellite cells; COPD weakness [57,58] |
| 32 | ↑ | 0.020 | 8.45 | Cardiac fibrosis; VSMC calcification [59,60] |
| 146b | ↑ | 0.034 | 2.18 | Up-regulated in DMD and BMD [30,36] |
| 92a | ↓ | 0.039 | 0.31 | Inhibits myogenic differentiation via Sp1 [61] |
| 576 | ↑ | 0.043 | 3.64 | Up-regulated in smooth muscle tumors [62] |
| 142-3p | ↑ | 0.044 | 2.69 | Elevated in models of DMD and myositis [31,36] |
| 505 | ↑ | 0.046 | 9.69 | Cardiac development and regeneration [63] |
| 29b | ↑ | 0.050 | 17.48 | Muscle atrophy, therapeutic target [64,65] |
| Severe FSHD versus Healthy Controls | ||||
| 32 | ↑ | 0.001 | 17.09 | Cardiac fibrosis; VSMC calcification [59,60] |
| 505 | ↑ | 0.007 | 19.51 | Cardiac development and regeneration [63] |
| 502-3p | ↓ | 0.009 | 0.36 | Myogenic differentiation; ACAD marker [66,67] |
| 103 | ↑ | 0.013 | 4.29 | Myogenic differentiation [67] |
| 98 | ↑ | 0.014 | 21.65 | Muscle differentiation [68] |
| 141 | ↑ | 0.016 | 7.52 | Biomarker for prostate and bladder cancer [69] |
| 29b | ↑ | 0.018 | 28.78 | Muscle atrophy, therapeutic target [64,65] |
| 34a | ↑ | 0.024 | 8.12 | Up in FSHD and myotonic dystrophy [70,71] |
| 140-3p | ↓ | 0.028 | 0.54 | Plasma biomarker of myotonic dystrophy [72,73] |
| 100 | ↑ | 0.029 | 3.58 | Up-regulated in LMNA dystrophy biopsies [74] |
| 329 | ↑ | 0.030 | 4.63 | Counteracts muscle hypertrophy [75] |
| 454 | ↑ | 0.046 | 2.02 | Plasma biomarker of myotonic dystrophy [72,73] |
| Severe FSHD versus Mild FSHD | ||||
| 502-3p | ↓ | 0.041 | 0.45 | Myogenic differentiation; ACAD marker [66,67] |
| 95 | ↑ | 0.042 | 2.21 | Up in DMD patient and dog model serum [76] |
| 886-3p | ↑ | 0.048 | 3.27 | Up in plasma of myotonic dystrophy patients [73] |
Italics = dysregulated in both mild and severe FSHD; ACAD = acute coronary artery disease, BMD = Becker muscular dystrophy, COPD = chronic obstructive pulmonary disease, DMD = Duchenne muscular dystrophy, IBD = inflammatory bowel disease, LMNA = Lamin A/C, TGFβ = Transforming Growth Factor β, VSMC = vascular smooth muscle cell. * p < 0.005.