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Article

Dysregulation of Circular RNAs in Myotonic Dystrophy Type 1

by
Christine Voellenkle
1,
Alessandra Perfetti
1,
Matteo Carrara
1,
Paola Fuschi
1,
Laura Valentina Renna
2,
Marialucia Longo
1,
Simona Baghai Sain
3,
Rosanna Cardani
2,
Rea Valaperta
4,
Gabriella Silvestri
5,
Ivano Legnini
6,
Irene Bozzoni
6,
Denis Furling
7,
Carlo Gaetano
8,
Germana Falcone
9,
Giovanni Meola
2,10,11 and
Fabio Martelli
1,*
1
Molecular Cardiology Laboratory, IRCCS Policlinico San Donato, San Donato Milanese, 20097 Milan, Italy
2
Laboratory of Muscle Histopathology and Molecular Biology, IRCCS Policlinico San Donato, San Donato Milanese, 20097 Milan, Italy
3
Center for Translational Genomics and Bioinformatics, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy
4
Research Laboratories, IRCCS Policlinico San Donato, San Donato Milanese, 20097 Milan, Italy
5
Department of Geriatrics, Orthopaedic and Neuroscience, Institute of Neurology, Catholic University of Sacred Heart, Fondazione Policlinico Gemelli, 00168 Rome, Italy
6
Department of Biology and Biotechnology “Charles Darwin”, Sapienza University of Rome, 00185 Rome, Italy
7
Sorbonne Université, INSERM, Association Institut de Myologie, Centre de Recherche en Myologie, F-75013 Paris, France
8
Laboratory of Epigenetics, Istituti Clinici Scientifici Maugeri, 27100 Pavia, Italy
9
Institute of Cell Biology and Neurobiology, National Research Council, Monterotondo, 00015 Rome, Italy
10
Department of Neurology, IRCCS Policlinico San Donato, San Donato Milanese, 20097 Milan, Italy
11
Department of Biomedical Sciences for Health, University of Milan, 20133 Milan, Italy
 
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*
Author to whom correspondence should be addressed.
Int. J. Mol. Sci. 2019, 20(8), 1938; https://doi.org/10.3390/ijms20081938
Submission received: 2 March 2019 / Revised: 10 April 2019 / Accepted: 17 April 2019 / Published: 19 April 2019
(This article belongs to the Special Issue Interplay between Pre-mRNA Splicing and Other Gene Expression Steps in Eukaryotes)
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Abstract

Circular RNAs (circRNAs) constitute a recently re-discovered class of non-coding RNAs functioning as sponges for miRNAs and proteins, affecting RNA splicing and regulating transcription. CircRNAs are generated by “back-splicing”, which is the linking covalently of 3′- and 5′-ends of exons. Thus, circRNA levels might be deregulated in conditions associated with altered RNA-splicing. Significantly, growing evidence indicates their role in human diseases. Specifically, myotonic dystrophy type 1 (DM1) is a multisystemic disorder caused by expanded CTG repeats in the DMPK gene which results in abnormal mRNA-splicing. In this investigation, circRNAs expressed in DM1 skeletal muscles were identified by analyzing RNA-sequencing data-sets followed by qPCR validation. In muscle biopsies, out of nine tested, four transcripts showed an increased circular fraction: CDYL, HIPK3, RTN4_03, and ZNF609. Their circular fraction values correlated with skeletal muscle strength and with splicing biomarkers of disease severity, and displayed higher values in more severely affected patients. Moreover, Receiver-Operating-Characteristics curves of these four circRNAs discriminated DM1 patients from controls. The identified circRNAs were also detectable in peripheral-blood-mononuclear-cells (PBMCs) and the plasma of DM1 patients, but they were not regulated significantly. Finally, increased circular fractions of RTN4_03 and ZNF609 were also observed in differentiated myogenic cell lines derived from DM1 patients. In conclusion, this pilot study identified circRNA dysregulation in DM1 patients.
Keywords: circular RNA; alternative splicing; muscular dystrophies circular RNA; alternative splicing; muscular dystrophies
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MDPI and ACS Style

Voellenkle, C.; Perfetti, A.; Carrara, M.; Fuschi, P.; Renna, L.V.; Longo, M.; Sain, S.B.; Cardani, R.; Valaperta, R.; Silvestri, G.; et al. Dysregulation of Circular RNAs in Myotonic Dystrophy Type 1. Int. J. Mol. Sci. 2019, 20, 1938. https://doi.org/10.3390/ijms20081938

AMA Style

Voellenkle C, Perfetti A, Carrara M, Fuschi P, Renna LV, Longo M, Sain SB, Cardani R, Valaperta R, Silvestri G, et al. Dysregulation of Circular RNAs in Myotonic Dystrophy Type 1. International Journal of Molecular Sciences. 2019; 20(8):1938. https://doi.org/10.3390/ijms20081938

Chicago/Turabian Style

Voellenkle, Christine, Alessandra Perfetti, Matteo Carrara, Paola Fuschi, Laura Valentina Renna, Marialucia Longo, Simona Baghai Sain, Rosanna Cardani, Rea Valaperta, Gabriella Silvestri, and et al. 2019. "Dysregulation of Circular RNAs in Myotonic Dystrophy Type 1" International Journal of Molecular Sciences 20, no. 8: 1938. https://doi.org/10.3390/ijms20081938

APA Style

Voellenkle, C., Perfetti, A., Carrara, M., Fuschi, P., Renna, L. V., Longo, M., Sain, S. B., Cardani, R., Valaperta, R., Silvestri, G., Legnini, I., Bozzoni, I., Furling, D., Gaetano, C., Falcone, G., Meola, G., & Martelli, F. (2019). Dysregulation of Circular RNAs in Myotonic Dystrophy Type 1. International Journal of Molecular Sciences, 20(8), 1938. https://doi.org/10.3390/ijms20081938

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