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.

Multiomic approaches to uncover the complexities of dystrophin-associated cardiomyopathy / A. Gowran, M. Brioschi, D. Rovina, M. Chiesa, L. Piacentini, S. Mallia, C. Banfi, G. Pompilio, R. Santoro. - In: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. - ISSN 1661-6596. - 22:16(2021 Aug 19), pp. 8954.1-8954.20. [10.3390/ijms22168954]

Multiomic approaches to uncover the complexities of dystrophin-associated cardiomyopathy

D. Rovina;L. Piacentini
;
G. Pompilio
Penultimo
;
2021

Abstract

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.
dystrophin-associated cardiomyopathy; dystrophinopathies; multiomic analysis; muscular dystrophy; preclinical precision models; animals; cardiomyopathies; computational biology; dystrophin; humans; proteome; genome; transcriptome
Settore MED/23 - Chirurgia Cardiaca
19-ago-2021
Article (author)
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/908202
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