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Volume 15
Issue 19
10.3390/diagnostics15192454
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This is an early access version, the complete PDF, HTML, and XML versions will be available soon.
Article

Dysregulation of miRNAs in Sicilian Patients with Huntington’s Disease

by
Michele Salemi
1,*,
Francesca Antonia Schillaci
1,
Maria Grazia Salluzzo
1,
Giovanna Marchese
2,3,
Giovanna Maria Ventola
2,
Concetta Perrotta
4,
Vincenzo Di Stefano
5,
Giuseppe Lanza
1,6 and
Raffaele Ferri
1
1
Oasi Research Institute-IRCCS, 94018 Troina, Italy
2
Genomix4Life Srl, 84081 Baronissi, Italy
3
Genome Research Center for Health-CRGS, 84081 Baronissi, Italy
4
Vittorio Emanuele Hospital, Caltanissetta ASP2, 93012 Gela, Italy
5
Department of Biomedicine, Neuroscience and Advanced Diagnostics (BiND), University of Palermo, 90127 Palermo, Italy
6
Department of Surgery and Medical-Surgical Specialties, University of Catania, 95123 Catania, Italy
*
Author to whom correspondence should be addressed.
Diagnostics 2025, 15(19), 2454; https://doi.org/10.3390/diagnostics15192454
Submission received: 21 August 2025 / Revised: 19 September 2025 / Accepted: 19 September 2025 / Published: 25 September 2025
(This article belongs to the Special Issue Neurological Diseases: Biomarkers, Diagnosis and Prognosis)
Versions Notes

Abstract

Background/Objectives: Huntington’s disease (HD) is an autosomal dominant neurodegenerative disorder caused by a CAG nucleotide repeat expansion in the Huntingtin (HTT) gene. Dysregulation of microRNAs (miRNAs), key post-transcriptional regulators of gene expression, has been implicated in HD pathogenesis, although their specific roles remain incompletely understood. Methods: Peripheral blood mononuclear cells from Sicilian HD patients and matched healthy controls were subjected to small RNA sequencing. Differential expression analysis was conducted using DESeq2 (version 1.44.0), with significance defined as |fold change| ≥ 1.5 and adjusted p ≤ 0.05. Ingenuity Pathway Analysis (IPA) was applied to assess functional enrichment, focusing on neurological diseases, inflammatory processes, and miRNA–RNA messenger (mRNA) interaction networks. Results: A total of 790 differentially expressed miRNAs were identified in HD patients (270 upregulated and 520 downregulated). IPA revealed enrichment in pathways related to organismal injury, neurological disease, and inflammatory responses. Four major regulatory networks linked differentially expressed miRNAs to neurodegenerative processes, with target genes involved in neuroinflammation, cellular stress responses, and metabolic dysfunction. Cross-referencing with previous RNA-seq data identified 5721 high-confidence miRNA–mRNA interactions, implicating 721 target genes across 54 key canonical pathways. Conclusions: HD patients exhibit a distinct and reproducible peripheral blood miRNA expression signature. These dysregulated miRNAs may represent accessible biomarkers and provide mechanistic insights into HD pathogenesis, with potential applications for diagnosis, prognosis, and therapeutic development.
Keywords: Huntington’s disease; microRNA; neurodegeneration; biomarker; neuroinflammation Huntington’s disease; microRNA; neurodegeneration; biomarker; neuroinflammation

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MDPI and ACS Style

Salemi, M.; Schillaci, F.A.; Salluzzo, M.G.; Marchese, G.; Ventola, G.M.; Perrotta, C.; Di Stefano, V.; Lanza, G.; Ferri, R. Dysregulation of miRNAs in Sicilian Patients with Huntington’s Disease. Diagnostics 2025, 15, 2454. https://doi.org/10.3390/diagnostics15192454

AMA Style

Salemi M, Schillaci FA, Salluzzo MG, Marchese G, Ventola GM, Perrotta C, Di Stefano V, Lanza G, Ferri R. Dysregulation of miRNAs in Sicilian Patients with Huntington’s Disease. Diagnostics. 2025; 15(19):2454. https://doi.org/10.3390/diagnostics15192454

Chicago/Turabian Style

Salemi, Michele, Francesca Antonia Schillaci, Maria Grazia Salluzzo, Giovanna Marchese, Giovanna Maria Ventola, Concetta Perrotta, Vincenzo Di Stefano, Giuseppe Lanza, and Raffaele Ferri. 2025. "Dysregulation of miRNAs in Sicilian Patients with Huntington’s Disease" Diagnostics 15, no. 19: 2454. https://doi.org/10.3390/diagnostics15192454

APA Style

Salemi, M., Schillaci, F. A., Salluzzo, M. G., Marchese, G., Ventola, G. M., Perrotta, C., Di Stefano, V., Lanza, G., & Ferri, R. (2025). Dysregulation of miRNAs in Sicilian Patients with Huntington’s Disease. Diagnostics, 15(19), 2454. https://doi.org/10.3390/diagnostics15192454

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