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

Laila Rachad; Hicham El Otmani; Khadija El Azhary; Nabil Zaid; Nadia El Kadmiri; Sellama Nadifi

doi:10.63095/NBSEH.25.224450

Authors

Laila Rachad Laboratory of Medical Genetics and Molecular Pathologies, Faculty of Medicine and Pharmacy, Hassan II University of Casablanca (https://ror.org/001q4kn48), Casablanca, Morocco.
Hicham El Otmani 1 Laboratory of Medical Genetics and Molecular Pathologies, Faculty of Medicine and Pharmacy, Hassan II University of Casablanca (https://ror.org/001q4kn48), Casablanca, Morocco. 2 Department of Neurology, Ibn Rochd University Hospital (ROR: https://ror.org/03sbc8x80), Casablanca, Morocco.
Khadija El Azhary Laboratory of Medical Genetics and Molecular Pathologies, Faculty of Medicine and Pharmacy, Hassan II University of Casablanca (https://ror.org/001q4kn48), Casablanca, Morocco.
Nabil Zaid Beaulieu-Saucier Pharmacogenomics Centre, Montreal Heart Institute (https://ror.org/03vs03g62), Montreal, QC, Canada.
Nadia El Kadmiri 1 Laboratory of Medical Genetics and Molecular Pathologies, Faculty of Medicine and Pharmacy, Hassan II University of Casablanca (https://ror.org/001q4kn48), Casablanca, Morocco. 2 LBVE, Polydisciplinary Faculty of Taroudant, Ibn Zohr University (ROR: https://ror.org/006sgpv47), Taroudant, Morocco.
Sellama Nadifi Laboratory of Medical Genetics and Molecular Pathologies, Faculty of Medicine and Pharmacy, Hassan II University of Casablanca (https://ror.org/001q4kn48), Casablanca, Morocco.

DOI:

https://doi.org/10.63095/NBSEH.25.224450

Keywords:

Myoclonus-Dystonia, SGCE, TOR1A, Biomarker

Abstract

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.

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