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Circulating U13 Small Nucleolar RNA as a Potential Biomarker in Huntington’s Disease: A Pilot Study
Plasma small RNAs have been recently explored as biomarkers in Huntington’s disease (HD). We performed an exploratory study on nine HD patients, eight healthy subjects (HS), and five psychiatric patients (PP; to control for iatrogenic confounder effects) through an Affymetrix-Gene-Chip-miRNA-Array....
Autores principales: | , , , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9604297/ https://www.ncbi.nlm.nih.gov/pubmed/36293304 http://dx.doi.org/10.3390/ijms232012440 |
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author | Romano, Silvia Romano, Carmela Peconi, Martina Fiore, Alessia Bellucci, Gianmarco Morena, Emanuele Troili, Fernanda Cipollini, Virginia Annibali, Viviana Giglio, Simona Mechelli, Rosella Ferraldeschi, Michela Veneziano, Liana Mantuano, Elide Sani, Gabriele Vecchione, Andrea Umeton, Renato Giubilei, Franco Salvetti, Marco Corbo, Rosa Maria Scarabino, Daniela Ristori, Giovanni |
author_facet | Romano, Silvia Romano, Carmela Peconi, Martina Fiore, Alessia Bellucci, Gianmarco Morena, Emanuele Troili, Fernanda Cipollini, Virginia Annibali, Viviana Giglio, Simona Mechelli, Rosella Ferraldeschi, Michela Veneziano, Liana Mantuano, Elide Sani, Gabriele Vecchione, Andrea Umeton, Renato Giubilei, Franco Salvetti, Marco Corbo, Rosa Maria Scarabino, Daniela Ristori, Giovanni |
author_sort | Romano, Silvia |
collection | PubMed |
description | Plasma small RNAs have been recently explored as biomarkers in Huntington’s disease (HD). We performed an exploratory study on nine HD patients, eight healthy subjects (HS), and five psychiatric patients (PP; to control for iatrogenic confounder effects) through an Affymetrix-Gene-Chip-miRNA-Array. We validated the results in an independent population of 23 HD, 15 pre-HD, 24 PP, 28 Alzheimer’s disease (AD) patients (to control the disease-specificity) and 22 HS through real-time PCR. The microarray results showed higher levels of U13 small nucleolar RNA (SNORD13) in HD patients than controls (fold change 1.54, p = 0.003 HD vs. HS, and 1.44, p = 0.0026 HD vs. PP). In the validation population, a significant increase emerged with respect to both pre-HD and the control groups (p < 0.0001). SNORD13 correlated with the status of the mutant huntingtin carrier (r = 0.73; p < 0.001) and the disease duration (r = 0.59; p = 0.003). The receiver operating characteristic (ROC) curve analysis showed the high accuracy of SNORD13 in discriminating HD patients from other groups (AUC = 0.963). An interactome and pathway analysis on SNORD13 revealed enrichments for factors relevant to HD pathogenesis. We report the unprecedented finding of a potential disease-specific role of SNORD13 in HD. It seems to peripherally report a ‘tipping point’ in the pathogenic cascade at the neuronal level. |
format | Online Article Text |
id | pubmed-9604297 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-96042972022-10-27 Circulating U13 Small Nucleolar RNA as a Potential Biomarker in Huntington’s Disease: A Pilot Study Romano, Silvia Romano, Carmela Peconi, Martina Fiore, Alessia Bellucci, Gianmarco Morena, Emanuele Troili, Fernanda Cipollini, Virginia Annibali, Viviana Giglio, Simona Mechelli, Rosella Ferraldeschi, Michela Veneziano, Liana Mantuano, Elide Sani, Gabriele Vecchione, Andrea Umeton, Renato Giubilei, Franco Salvetti, Marco Corbo, Rosa Maria Scarabino, Daniela Ristori, Giovanni Int J Mol Sci Article Plasma small RNAs have been recently explored as biomarkers in Huntington’s disease (HD). We performed an exploratory study on nine HD patients, eight healthy subjects (HS), and five psychiatric patients (PP; to control for iatrogenic confounder effects) through an Affymetrix-Gene-Chip-miRNA-Array. We validated the results in an independent population of 23 HD, 15 pre-HD, 24 PP, 28 Alzheimer’s disease (AD) patients (to control the disease-specificity) and 22 HS through real-time PCR. The microarray results showed higher levels of U13 small nucleolar RNA (SNORD13) in HD patients than controls (fold change 1.54, p = 0.003 HD vs. HS, and 1.44, p = 0.0026 HD vs. PP). In the validation population, a significant increase emerged with respect to both pre-HD and the control groups (p < 0.0001). SNORD13 correlated with the status of the mutant huntingtin carrier (r = 0.73; p < 0.001) and the disease duration (r = 0.59; p = 0.003). The receiver operating characteristic (ROC) curve analysis showed the high accuracy of SNORD13 in discriminating HD patients from other groups (AUC = 0.963). An interactome and pathway analysis on SNORD13 revealed enrichments for factors relevant to HD pathogenesis. We report the unprecedented finding of a potential disease-specific role of SNORD13 in HD. It seems to peripherally report a ‘tipping point’ in the pathogenic cascade at the neuronal level. MDPI 2022-10-18 /pmc/articles/PMC9604297/ /pubmed/36293304 http://dx.doi.org/10.3390/ijms232012440 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article Romano, Silvia Romano, Carmela Peconi, Martina Fiore, Alessia Bellucci, Gianmarco Morena, Emanuele Troili, Fernanda Cipollini, Virginia Annibali, Viviana Giglio, Simona Mechelli, Rosella Ferraldeschi, Michela Veneziano, Liana Mantuano, Elide Sani, Gabriele Vecchione, Andrea Umeton, Renato Giubilei, Franco Salvetti, Marco Corbo, Rosa Maria Scarabino, Daniela Ristori, Giovanni Circulating U13 Small Nucleolar RNA as a Potential Biomarker in Huntington’s Disease: A Pilot Study |
title | Circulating U13 Small Nucleolar RNA as a Potential Biomarker in Huntington’s Disease: A Pilot Study |
title_full | Circulating U13 Small Nucleolar RNA as a Potential Biomarker in Huntington’s Disease: A Pilot Study |
title_fullStr | Circulating U13 Small Nucleolar RNA as a Potential Biomarker in Huntington’s Disease: A Pilot Study |
title_full_unstemmed | Circulating U13 Small Nucleolar RNA as a Potential Biomarker in Huntington’s Disease: A Pilot Study |
title_short | Circulating U13 Small Nucleolar RNA as a Potential Biomarker in Huntington’s Disease: A Pilot Study |
title_sort | circulating u13 small nucleolar rna as a potential biomarker in huntington’s disease: a pilot study |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9604297/ https://www.ncbi.nlm.nih.gov/pubmed/36293304 http://dx.doi.org/10.3390/ijms232012440 |
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