Plasma Micro-RNA Signatures of Type 1 Ryanodine Receptor Related Myopathies
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Pathogenic RYR1 variants are associated with a set of rare neuromuscular disorders termed RYR1 -related disorders ( RYR1 -RD). Clinical manifestations of RYR1 -RD include proximal/axial muscle weakness, delayed motor milestones, impaired mobility, muscle pain, and fatigue. Muscle-specific microRNAs (miRNAs) are mostly expressed in muscle tissue and can be detected peripherally in plasma. Using a digital detection system, here we identified and quantified differential amounts of miRNAs in six adult (four monoallelic and two biallelic) RYR1 -RD patient plasma samples compared to controls. Overall, 51 differentially expressed miRNAs were identified and hsa-miR-4454+hsa-miR-7975, in particular, was significantly overexpressed relative to controls (+ 39-fold, P=0.00285). Exploration of these differentially expressed miRNAs warrant further investigation as potential biomarkers of RYR1 -RD.
