Researchers from Spain identified specific combinations of circulating micro RNAs (miRNAs) that are differentially expressed in patients with muscular dystrophies including Duchenne muscular dystrophy (DMD), limb-girdle muscular dystrophy (LGMD), and facioscapulohumeral muscular dystrophy (FSHD). 

These miRNAs could be used as a potential molecular signature that could help stratify patients and predict the prognosis of the disease, the authors noted.

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The study is published in the Orphanet Journal of Rare Diseases.

The aim of the team was to identify a molecular signature including biochemical and epigenetic parameters that could potentially help in patient prognosis and stratification in a noninvasive way.

They obtained and analyzed the circulating miRNome of 6 patients with LGMD, 5 patients with DMD, 4 patients with FSHD, and 6 matched controls. They also analyzed biochemical and clinical parameters. 

The results showed that there were 13 differentially expressed miRNAs that could separate LGMD patients from controls. Of these 13 miRNAs, 10 were upregulated, while 3 were downregulated compared to the controls. 

The biological pathways that were affected by these differential expressions were associated with the cell cycle and the development, regeneration, and senescence of the muscle tissue. 

The researchers then further analyzed 4 of these circulating miRNAs, namely miR-122-5p, miR-192-5p, miR-19b-3p and miR-323b-3p and the myomiR miR-206 in patients with DMD, LGMD, and FSHD and in controls. 

They found that these miRNAs had good sensitivity and specificity to distinguish patients with all 3 types of muscular dystrophy from healthy controls.

Three of these 4 miRNAs (miR-122-5p, miR-192-5p, and miR-323-3p) were differentially expressed in all 3 diseases compared to controls and each type of muscular dystrophy had a specific pattern of expression. However, there was a correlation between the expression of miRNAs and biochemical parameters only in the case of LGMD with miR-192-5p and miR-122-5p negatively correlating with levels of creatine kinase and miR-192-5p positively correlated with levels of vitamin D3 and alkaline phosphatase.

These findings “should be further confirmed in a larger cohort of patients,” the authors said.


García-Giménez JL, García-Trevijano ER, Avilés-Alía AI, et al. Identification of circulating miRNAs differentially expressed in patients with limb-girdle, Duchenne or facioscapulohumeral muscular dystrophies. Orphanet J Rare Dis. Published online December 27, 2022. doi:10.1186/s13023-022-02603-3