Table 2.
List of candidate serum protein biomarkers for DMD and their corresponding mRNA expression levels* in DMD muscle tissue compared to controls.
| Target | Protein fold-change in serum (DMD/Cnt) | mRNA fold-change in muscle (DMD/Cnt) | snRNAseq muscle tissue | |||
|---|---|---|---|---|---|---|
| VBP15 | FORDMD | Bakay et al., 2006 | Pescatori et al., 2007 | Suárez-Calvet et al., 2023 | ||
| Muscle specific biomarkers | MYBPH | 13.1 | 22.6 | 8.0 | 4.1 | 5.02 (regenerative fiber) |
| TNNT2 | 14.6 | 16.0 | 2.8 | 3.0 | 8.95 (regenerative fiber) | |
| MYOM2 | 80.2 | 70.0 | −1.36 | −1.36 | 2.66 (fast and slow fibers) | |
| ACTN2 | 151.4 | 202.6 | −1.26 | −1.6 | 1.5 (fast and slow fibers) | |
| TNNI2 | 50.54 | 48 | −1.43 | −1.25 | 2.12 (fast fibers) | |
| CA3 | 50.88 | 54.59 | 1.38 | −1.03 | 2.31 (slow fibers) | |
| MYL3 | 44.28 | 66.09 | −1.2 | −1.4 | −0.91 (slow fibers) | |
| Extracellular matrix remodeling | LUM | 1.1 | 1.2 | 6.7 | 4.8 | 1.25 (FAP cells) |
| COL6A3 | 1.47 | 1.37 | 4.5 | 2.6 | 3.08 (FAP cells) | |
| THBS4 | 1.51 | 1.46 | 2.4 | 2.26 | 0.81 (FAP and SMC cells) | |
| ADAM12 | 1.24 | 1.21 | 1.22 | 1.06 | 6.85 (FAP cells) | |
| CCDC80 | 1.67 | 1.57 | Nd | nd | 4.97 (FAP cells) | |
| Growth factors and muscle regeneration factors | SPP1 | −1.3 | −1.2 | 15.1 | 3.5 | trace |
| IGF1 | −1.13 | −1.12 | 3.2 | 1.67 | 1.69 (slow fibers and FAP) | |
| IGF2 | −1.64 | −1.24 | 4.6 | 1.84 | 8.94 (FAPs cells) | |
| IGFBP3 | −1.41 | −1.26 | 5.6 | 1.46 | 3.59 (FAP cells) | |
| VEGFD | −1.63 | −1.38 | −1.8 | −1.23 | −1.79 (fast and slow fibers) | |
| ANXA1 | 1.8 | 1.9 | 4.4 | 2.2 | 1.2 (FAP cells) | |
| Immune modulators | CXCL10 | 1.52 | 1.29 | 1.3 | 1.20 | trace |
| CXCL11 | 1.65 | 1.7 | 1.16 | 1.09 | trace | |
| IL1RN | 1.21 | 1.26 | 1.22 | −1.00 | trace | |
| SERPINB1 | 1.45 | 1.45 | 1.5 | 1.45 | 1.1 (Slow and fast fibers) | |
| C3 | −2.7 | −1.4 | 7.5 | 3.7 | 14.1 (FAP cells) | |
| Others | ART3 | −2.2 | −2.5 | −4.6 | −2.3 | −0.9 (Slow and fast fibers) |
| GSN | −1.4 | −1.3 | 2.2 | 1.19 | 2.4 (FAP and SMC cells) | |
| NNMT | 3.88 | 6.2 | 11.8 | 3.65 | −0.5 (Slow fibers) | |
| PENK | 5.81 | 4.66 | 3.0 | 2.7 | trace | |
* Note that many targets had multiple probes; we focused on the same probes across datasets, prioritizing the “_at” probe.
nd: not determined.