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Epitranscriptomic Analysis of A-to-I RNA Editing and m6A Using Short- and Long-Read Sequencing Technologies
 
 
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10.3390/ijms27188250
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Article

ADAR1 and ADAR2 Expression in the Thoracic Aortic Wall Correlates with Aneurysm Severity and Dissection Risk: Insights into A-to-I RNA Editing Dysregulation in Marfan Syndrome-Derived vSMCs

by
Calogera Pisano
1,2,†,
Ambra Colopi
3,†,
Domenico Alessandro Silvestris
4,
Sonia Terriaca
3,
Eugenia Guida
3,
Annamaria Porreca
5,6,
Adriana Sbrigata
1,
Paolo Niccolò Doronzio
7,
Augusto Orlandi
3,
Susanna Dolci
3,
Piergiorgio La Rosa
8,‡ and
Valeriana Cesarini
9,10,*,‡
1
Cardiac Surgery Unit, Department of Precision Medicine in Medical Surgical and Critical Area (Me.Pre.C.C.), University of Palermo, 90127 Palermo, Italy
2
Department of Research, IRCCS-ISMETT (Mediterranean Institute for Transplantation and Specialized Therapies), 90127 Palermo, Italy
3
Department of Biomedicine and Prevention, University of Rome Tor Vergata, 00133 Rome, Italy
4
Department of Biosciences, Biotechnologies and Environment, University of Bari “Aldo Moro”, 70126 Bari, Italy
5
Department of Human Sciences and Promotion of the Quality of Life, San Raffaele Roma Open University, 00166 Rome, Italy
6
Unit of Clinical and Molecular Epidemiology, IRCCS San Raffaele Roma, 00163 Rome, Italy
7
Department of Life Sciences and Public Health, Section of Genomic Medicine, Catholic University of the Sacred Heart, 00168 Rome, Italy
8
Department of Neuroscience, Section of Human Anatomy, Catholic University of the Sacred Heart, 00168 Rome, Italy
9
Institute of Genetic and Biomedical Research (IRGB), National Research Council of Italy, Milan Unit, 20138 Milan, Italy
10
IRCCS Humanitas Research Hospital, Rozzano, 20089 Milan, Italy
*
Author to whom correspondence should be addressed.
†
These authors contributed equally to this work.
‡
These authors also contributed equally to this work.
Int. J. Mol. Sci. 2026, 27(18), 8250; https://doi.org/10.3390/ijms27188250
Submission received: 14 August 2026 / Revised: 10 September 2026 / Accepted: 11 September 2026 / Published: 16 September 2026
(This article belongs to the Special Issue RNA Editing/Modification in Health and Disease)
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Abstract

Adenosine-to-inosine (A-to-I) RNA editing, catalyzed by ADAR1 and ADAR2, is an epitranscriptomic mechanism with emerging roles in cardiovascular disease. We investigated ADAR expression, clinical correlates, A-to-I RNA editing signatures, transcriptome and miRNA targetome in thoracic aortic aneurysm (TAA), focusing on Marfan syndrome (MFS). Immunohistochemical analysis of 58 TAA specimens (18 MFS-associated TAA, 19 tricuspid aortic valve-associated TAA (TAV), 21 bicuspid aortic valve-associated TAA (BAV)) showed the highest ADAR1 and ADAR2 in MFS. ADAR2 in vascular smooth muscle cells (vSMCs) correlated positively with aortic diameter across subtypes; ADAR1 inversely correlated with sinotubular junction dimension in MFS. Transcriptomic profiling of MFS-derived vSMC cultures identified 30 differentially expressed genes enriched in immune activation, impaired RTK signaling, and vSMC reprogramming. RNA editing analysis revealed 77 differentially edited sites across 65 genes, predominantly hypoedited in MFS, including four protein-coding recoding events at PPIL3, SLC12A6, CTSB, and VHL. miRNA seed-match analysis of 47 significant 3′UTR sites predicted 458 editing-dependent interactions across 36 genes. Only 14/36 genes showed concordant mRNA changes, suggesting that editing-dependent miRNA retargeting acts primarily at the translational level. These findings establish ADAR enzymes as candidates tissue biomarkers of TAA severity and ADAR1 as the principal driver of epitranscriptomic dysregulation in MFS aortopathy.
Keywords: thoracic aortic aneurysm; Marfan syndrome; ADAR1; ADAR2; A-to-I RNA editing; miRNA retargeting; epitranscriptomics; vascular smooth muscle cells thoracic aortic aneurysm; Marfan syndrome; ADAR1; ADAR2; A-to-I RNA editing; miRNA retargeting; epitranscriptomics; vascular smooth muscle cells

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MDPI and ACS Style

Pisano, C.; Colopi, A.; Silvestris, D.A.; Terriaca, S.; Guida, E.; Porreca, A.; Sbrigata, A.; Doronzio, P.N.; Orlandi, A.; Dolci, S.; et al. ADAR1 and ADAR2 Expression in the Thoracic Aortic Wall Correlates with Aneurysm Severity and Dissection Risk: Insights into A-to-I RNA Editing Dysregulation in Marfan Syndrome-Derived vSMCs. Int. J. Mol. Sci. 2026, 27, 8250. https://doi.org/10.3390/ijms27188250

AMA Style

Pisano C, Colopi A, Silvestris DA, Terriaca S, Guida E, Porreca A, Sbrigata A, Doronzio PN, Orlandi A, Dolci S, et al. ADAR1 and ADAR2 Expression in the Thoracic Aortic Wall Correlates with Aneurysm Severity and Dissection Risk: Insights into A-to-I RNA Editing Dysregulation in Marfan Syndrome-Derived vSMCs. International Journal of Molecular Sciences. 2026; 27(18):8250. https://doi.org/10.3390/ijms27188250

Chicago/Turabian Style

Pisano, Calogera, Ambra Colopi, Domenico Alessandro Silvestris, Sonia Terriaca, Eugenia Guida, Annamaria Porreca, Adriana Sbrigata, Paolo Niccolò Doronzio, Augusto Orlandi, Susanna Dolci, and et al. 2026. "ADAR1 and ADAR2 Expression in the Thoracic Aortic Wall Correlates with Aneurysm Severity and Dissection Risk: Insights into A-to-I RNA Editing Dysregulation in Marfan Syndrome-Derived vSMCs" International Journal of Molecular Sciences 27, no. 18: 8250. https://doi.org/10.3390/ijms27188250

APA Style

Pisano, C., Colopi, A., Silvestris, D. A., Terriaca, S., Guida, E., Porreca, A., Sbrigata, A., Doronzio, P. N., Orlandi, A., Dolci, S., La Rosa, P., & Cesarini, V. (2026). ADAR1 and ADAR2 Expression in the Thoracic Aortic Wall Correlates with Aneurysm Severity and Dissection Risk: Insights into A-to-I RNA Editing Dysregulation in Marfan Syndrome-Derived vSMCs. International Journal of Molecular Sciences, 27(18), 8250. https://doi.org/10.3390/ijms27188250

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