The SIRT1 activator SRT2104 exerts exercise mimetic effects and promotes Duchenne muscular dystrophy recovery

Abstract Duchenne muscular dystrophy (DMD) is a devastating genetic disorder, whose management is still a major challenge, despite progress in genetic and pharmacological disease-modifying treatments have been made. Mitochondrial dysfunctions contribute to DMD, however, there are no effective mitoch...

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Main Authors: Matteo Giovarelli, Silvia Zecchini, Silvia Rosanna Casati, Laura Lociuro, Oriola Gjana, Luca Mollica, Elena Pisanu, Harcel Djaya Mbissam, Ornella Cappellari, Chiara De Santis, Alessandro Arcari, Anne Bigot, Giuditta Clerici, Elisabetta Catalani, Simona Del Quondam, Annapaola Andolfo, Clarissa Braccia, Maria Grazia Cattaneo, Cristina Banfi, Dario Brunetti, Emanuele Mocciaro, Annamaria De Luca, Emilio Clementi, Davide Cervia, Cristiana Perrotta, Clara De Palma
Format: Article
Language:English
Published: Nature Publishing Group 2025-04-01
Series:Cell Death and Disease
Online Access:https://doi.org/10.1038/s41419-025-07595-z
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author Matteo Giovarelli
Silvia Zecchini
Silvia Rosanna Casati
Laura Lociuro
Oriola Gjana
Luca Mollica
Elena Pisanu
Harcel Djaya Mbissam
Ornella Cappellari
Chiara De Santis
Alessandro Arcari
Anne Bigot
Giuditta Clerici
Elisabetta Catalani
Simona Del Quondam
Annapaola Andolfo
Clarissa Braccia
Maria Grazia Cattaneo
Cristina Banfi
Dario Brunetti
Emanuele Mocciaro
Annamaria De Luca
Emilio Clementi
Davide Cervia
Cristiana Perrotta
Clara De Palma
author_facet Matteo Giovarelli
Silvia Zecchini
Silvia Rosanna Casati
Laura Lociuro
Oriola Gjana
Luca Mollica
Elena Pisanu
Harcel Djaya Mbissam
Ornella Cappellari
Chiara De Santis
Alessandro Arcari
Anne Bigot
Giuditta Clerici
Elisabetta Catalani
Simona Del Quondam
Annapaola Andolfo
Clarissa Braccia
Maria Grazia Cattaneo
Cristina Banfi
Dario Brunetti
Emanuele Mocciaro
Annamaria De Luca
Emilio Clementi
Davide Cervia
Cristiana Perrotta
Clara De Palma
author_sort Matteo Giovarelli
collection DOAJ
description Abstract Duchenne muscular dystrophy (DMD) is a devastating genetic disorder, whose management is still a major challenge, despite progress in genetic and pharmacological disease-modifying treatments have been made. Mitochondrial dysfunctions contribute to DMD, however, there are no effective mitochondrial therapies for DMD. SIRT1 is a NAD+-dependent deacetylase that controls several key processes and whose impairment is involved in determining mitochondrial dysfunction in DMD. In addition to well-known resveratrol, other potent selective activators of SIRT1 exist, with better pharmacokinetics properties and a safer profile. Among these, SRT2104 is the most promising and advanced in clinical studies. Here we unveil the beneficial effects of SRT2104 in flies, mice, and patient-derived myoblasts as different models of DMD, demonstrating an anti-inflammatory, anti-fibrotic, and pro-regenerative action of the drug. We elucidate, by molecular dynamics simulations, that a conformational selection mechanism is responsible for the activation of SIRT1. Further, the impact of SRT2104 in reshaping muscle proteome and acetylome profiles has been investigated, highlighting effects that mimic those induced by exercise. Overall, our data suggest SRT2104 as a possible therapeutic candidate to successfully counteract DMD progression.
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spelling doaj-art-20c63607e7354b29b2fbfcfd2e5afc9b2025-08-20T02:11:47ZengNature Publishing GroupCell Death and Disease2041-48892025-04-0116111410.1038/s41419-025-07595-zThe SIRT1 activator SRT2104 exerts exercise mimetic effects and promotes Duchenne muscular dystrophy recoveryMatteo Giovarelli0Silvia Zecchini1Silvia Rosanna Casati2Laura Lociuro3Oriola Gjana4Luca Mollica5Elena Pisanu6Harcel Djaya Mbissam7Ornella Cappellari8Chiara De Santis9Alessandro Arcari10Anne Bigot11Giuditta Clerici12Elisabetta Catalani13Simona Del Quondam14Annapaola Andolfo15Clarissa Braccia16Maria Grazia Cattaneo17Cristina Banfi18Dario Brunetti19Emanuele Mocciaro20Annamaria De Luca21Emilio Clementi22Davide Cervia23Cristiana Perrotta24Clara De Palma25Department of Biomedical and Clinical Sciences (DIBIC), Università degli Studi di MilanoDepartment of Biomedical and Clinical Sciences (DIBIC), Università degli Studi di MilanoDepartment of Biomedical and Clinical Sciences (DIBIC), Università degli Studi di MilanoDepartment of Medical Biotechnology and Translational Medicine (BioMeTra), Università degli Studi di Milano; SegrateDepartment of Medical Biotechnology and Translational Medicine (BioMeTra), Università degli Studi di Milano; SegrateDepartment of Medical Biotechnology and Translational Medicine (BioMeTra), Università degli Studi di Milano; SegrateDepartment of Medical Biotechnology and Translational Medicine (BioMeTra), Università degli Studi di Milano; SegrateDepartment of Biomedical and Clinical Sciences (DIBIC), Università degli Studi di MilanoDepartment of Pharmacy - Drug Sciences, University of Bari Aldo MoroDepartment of Pharmacy - Drug Sciences, University of Bari Aldo MoroDepartment of Biomedical and Clinical Sciences (DIBIC), Università degli Studi di MilanoSorbonne Université, Inserm, Institut de Myologie, Centre de Recherche en MyologieHuman TechnopoleDepartment for Innovation in Biological, Agro-Food and Forest Systems (DIBAF), Università degli Studi della TusciaDepartment for Innovation in Biological, Agro-Food and Forest Systems (DIBAF), Università degli Studi della TusciaProMeFa, Proteomics and Metabolomics Facility, Center for Omics Sciences, IRCCS San Raffaele Scientific InstituteProMeFa, Proteomics and Metabolomics Facility, Center for Omics Sciences, IRCCS San Raffaele Scientific InstituteDepartment of Medical Biotechnology and Translational Medicine (BioMeTra), Università degli Studi di Milano; SegrateUnit of Functional Proteomics, Metabolomics and Network Analysis, Centro Cardiologico Monzino IRCCSUnità di Genetica Medica e Neurogenetica, Fondazione IRCCS Istituto Neurologico Carlo BestaDepartment of Biomedical and Clinical Sciences (DIBIC), Università degli Studi di MilanoDepartment of Pharmacy - Drug Sciences, University of Bari Aldo MoroDepartment of Biomedical and Clinical Sciences (DIBIC), Università degli Studi di MilanoDepartment for Innovation in Biological, Agro-Food and Forest Systems (DIBAF), Università degli Studi della TusciaDepartment of Biomedical and Clinical Sciences (DIBIC), Università degli Studi di MilanoDepartment of Medical Biotechnology and Translational Medicine (BioMeTra), Università degli Studi di Milano; SegrateAbstract Duchenne muscular dystrophy (DMD) is a devastating genetic disorder, whose management is still a major challenge, despite progress in genetic and pharmacological disease-modifying treatments have been made. Mitochondrial dysfunctions contribute to DMD, however, there are no effective mitochondrial therapies for DMD. SIRT1 is a NAD+-dependent deacetylase that controls several key processes and whose impairment is involved in determining mitochondrial dysfunction in DMD. In addition to well-known resveratrol, other potent selective activators of SIRT1 exist, with better pharmacokinetics properties and a safer profile. Among these, SRT2104 is the most promising and advanced in clinical studies. Here we unveil the beneficial effects of SRT2104 in flies, mice, and patient-derived myoblasts as different models of DMD, demonstrating an anti-inflammatory, anti-fibrotic, and pro-regenerative action of the drug. We elucidate, by molecular dynamics simulations, that a conformational selection mechanism is responsible for the activation of SIRT1. Further, the impact of SRT2104 in reshaping muscle proteome and acetylome profiles has been investigated, highlighting effects that mimic those induced by exercise. Overall, our data suggest SRT2104 as a possible therapeutic candidate to successfully counteract DMD progression.https://doi.org/10.1038/s41419-025-07595-z
spellingShingle Matteo Giovarelli
Silvia Zecchini
Silvia Rosanna Casati
Laura Lociuro
Oriola Gjana
Luca Mollica
Elena Pisanu
Harcel Djaya Mbissam
Ornella Cappellari
Chiara De Santis
Alessandro Arcari
Anne Bigot
Giuditta Clerici
Elisabetta Catalani
Simona Del Quondam
Annapaola Andolfo
Clarissa Braccia
Maria Grazia Cattaneo
Cristina Banfi
Dario Brunetti
Emanuele Mocciaro
Annamaria De Luca
Emilio Clementi
Davide Cervia
Cristiana Perrotta
Clara De Palma
The SIRT1 activator SRT2104 exerts exercise mimetic effects and promotes Duchenne muscular dystrophy recovery
Cell Death and Disease
title The SIRT1 activator SRT2104 exerts exercise mimetic effects and promotes Duchenne muscular dystrophy recovery
title_full The SIRT1 activator SRT2104 exerts exercise mimetic effects and promotes Duchenne muscular dystrophy recovery
title_fullStr The SIRT1 activator SRT2104 exerts exercise mimetic effects and promotes Duchenne muscular dystrophy recovery
title_full_unstemmed The SIRT1 activator SRT2104 exerts exercise mimetic effects and promotes Duchenne muscular dystrophy recovery
title_short The SIRT1 activator SRT2104 exerts exercise mimetic effects and promotes Duchenne muscular dystrophy recovery
title_sort sirt1 activator srt2104 exerts exercise mimetic effects and promotes duchenne muscular dystrophy recovery
url https://doi.org/10.1038/s41419-025-07595-z
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