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Multiomic Approaches to Uncover the Complexities of Dystrophin-Associated Cardiomyopathy

Despite major progress in treating skeletal muscle disease associated with dystrophinopathies, cardiomyopathy is emerging as a major cause of death in people carrying dystrophin gene mutations that remain without a targeted cure even with new treatment directions and advances in modelling abilities....

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Autores principales: Gowran, Aoife, Brioschi, Maura, Rovina, Davide, Chiesa, Mattia, Piacentini, Luca, Mallia, Sara, Banfi, Cristina, Pompilio, Giulio, Santoro, Rosaria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8396646/
https://www.ncbi.nlm.nih.gov/pubmed/34445659
http://dx.doi.org/10.3390/ijms22168954
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author Gowran, Aoife
Brioschi, Maura
Rovina, Davide
Chiesa, Mattia
Piacentini, Luca
Mallia, Sara
Banfi, Cristina
Pompilio, Giulio
Santoro, Rosaria
author_facet Gowran, Aoife
Brioschi, Maura
Rovina, Davide
Chiesa, Mattia
Piacentini, Luca
Mallia, Sara
Banfi, Cristina
Pompilio, Giulio
Santoro, Rosaria
author_sort Gowran, Aoife
collection PubMed
description Despite major progress in treating skeletal muscle disease associated with dystrophinopathies, cardiomyopathy is emerging as a major cause of death in people carrying dystrophin gene mutations that remain without a targeted cure even with new treatment directions and advances in modelling abilities. The reasons for the stunted progress in ameliorating dystrophin-associated cardiomyopathy (DAC) can be explained by the difficulties in detecting pathophysiological mechanisms which can also be efficiently targeted within the heart in the widest patient population. New perspectives are clearly required to effectively address the unanswered questions concerning the identification of authentic and effectual readouts of DAC occurrence and severity. A potential way forward to achieve further therapy breakthroughs lies in combining multiomic analysis with advanced preclinical precision models. This review presents the fundamental discoveries made using relevant models of DAC and how omics approaches have been incorporated to date.
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spelling pubmed-83966462021-08-28 Multiomic Approaches to Uncover the Complexities of Dystrophin-Associated Cardiomyopathy Gowran, Aoife Brioschi, Maura Rovina, Davide Chiesa, Mattia Piacentini, Luca Mallia, Sara Banfi, Cristina Pompilio, Giulio Santoro, Rosaria Int J Mol Sci Review Despite major progress in treating skeletal muscle disease associated with dystrophinopathies, cardiomyopathy is emerging as a major cause of death in people carrying dystrophin gene mutations that remain without a targeted cure even with new treatment directions and advances in modelling abilities. The reasons for the stunted progress in ameliorating dystrophin-associated cardiomyopathy (DAC) can be explained by the difficulties in detecting pathophysiological mechanisms which can also be efficiently targeted within the heart in the widest patient population. New perspectives are clearly required to effectively address the unanswered questions concerning the identification of authentic and effectual readouts of DAC occurrence and severity. A potential way forward to achieve further therapy breakthroughs lies in combining multiomic analysis with advanced preclinical precision models. This review presents the fundamental discoveries made using relevant models of DAC and how omics approaches have been incorporated to date. MDPI 2021-08-19 /pmc/articles/PMC8396646/ /pubmed/34445659 http://dx.doi.org/10.3390/ijms22168954 Text en © 2021 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 Review
Gowran, Aoife
Brioschi, Maura
Rovina, Davide
Chiesa, Mattia
Piacentini, Luca
Mallia, Sara
Banfi, Cristina
Pompilio, Giulio
Santoro, Rosaria
Multiomic Approaches to Uncover the Complexities of Dystrophin-Associated Cardiomyopathy
title Multiomic Approaches to Uncover the Complexities of Dystrophin-Associated Cardiomyopathy
title_full Multiomic Approaches to Uncover the Complexities of Dystrophin-Associated Cardiomyopathy
title_fullStr Multiomic Approaches to Uncover the Complexities of Dystrophin-Associated Cardiomyopathy
title_full_unstemmed Multiomic Approaches to Uncover the Complexities of Dystrophin-Associated Cardiomyopathy
title_short Multiomic Approaches to Uncover the Complexities of Dystrophin-Associated Cardiomyopathy
title_sort multiomic approaches to uncover the complexities of dystrophin-associated cardiomyopathy
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8396646/
https://www.ncbi.nlm.nih.gov/pubmed/34445659
http://dx.doi.org/10.3390/ijms22168954
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