Peripheral Blood mRNA Profiling of SGCE and TOR1A in Myoclonus-Dystonia Syndrome: A Genetic Expression Study.

Myoclonus-Dystonia (M-D) is a rare autosomal-dominant movement disorder characterized by myoclonic jerks and dystonic symptoms. Myoclonus-Dystonia has been linked to mutations affecting the epsilon-sarcoglycan (SGCE, DYT11) gene. The syndrome has also been associated with mutations in the TOR1A (DYT1) gene. Herein we propose for the first time a link between the mRNA expression levels of SGCE and TOR1A. The main aim of this study was to detect the SGCE and TOR1A mRNA levels in peripheral blood of M-D patients and to explore the correlation between their mRNA levels. We have demonstrated that SGCE mRNA was highly expressed in peripheral blood of M-D patients compared to healthy controls (P = 0.04). We also observed that TOR1A mRNA levels were markedly higher in M-D patients than in healthy controls (P = 0.009). Furthermore, we have demonstrated a significant positive correlation between the SGCE and TOR1A mRNA levels in M-D patients (r = 0.659, p = 0.01). These findings suggest that the analysis of SGCE and TOR1A mRNA levels in peripheral blood could serve as a potential molecular biomarker for distinguishing M-D patients from healthy controls.