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Human induced pluripotent stem cell models for the study and treatment of Duchenne and Becker muscular dystrophies
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| Zeitschriftentitel: | Therapeutic Advances in Neurological Disorders |
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| Personen und Körperschaften: | , , , , , , , |
| In: | Therapeutic Advances in Neurological Disorders, 12, 2019, S. 175628641983347 |
| Format: | E-Article |
| Sprache: | Englisch |
| veröffentlicht: |
SAGE Publications
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| Schlagwörter: |
| author_facet |
Piga, Daniela Salani, Sabrina Magri, Francesca Brusa, Roberta Mauri, Eleonora Comi, Giacomo P. Bresolin, Nereo Corti, Stefania Piga, Daniela Salani, Sabrina Magri, Francesca Brusa, Roberta Mauri, Eleonora Comi, Giacomo P. Bresolin, Nereo Corti, Stefania |
|---|---|
| author |
Piga, Daniela Salani, Sabrina Magri, Francesca Brusa, Roberta Mauri, Eleonora Comi, Giacomo P. Bresolin, Nereo Corti, Stefania |
| spellingShingle |
Piga, Daniela Salani, Sabrina Magri, Francesca Brusa, Roberta Mauri, Eleonora Comi, Giacomo P. Bresolin, Nereo Corti, Stefania Therapeutic Advances in Neurological Disorders Human induced pluripotent stem cell models for the study and treatment of Duchenne and Becker muscular dystrophies Neurology (clinical) Neurology Pharmacology |
| author_sort |
piga, daniela |
| spelling |
Piga, Daniela Salani, Sabrina Magri, Francesca Brusa, Roberta Mauri, Eleonora Comi, Giacomo P. Bresolin, Nereo Corti, Stefania 1756-2864 1756-2864 SAGE Publications Neurology (clinical) Neurology Pharmacology http://dx.doi.org/10.1177/1756286419833478 <jats:p>Duchenne and Becker muscular dystrophies are the most common muscle diseases and are both currently incurable. They are caused by mutations in the dystrophin gene, which lead to the absence or reduction/truncation of the encoded protein, with progressive muscle degeneration that clinically manifests in muscle weakness, cardiac and respiratory involvement and early death. The limits of animal models to exactly reproduce human muscle disease and to predict clinically relevant treatment effects has prompted the development of more accurate in vitro skeletal muscle models. However, the challenge of effectively obtaining mature skeletal muscle cells or satellite stem cells as primary cultures has hampered the development of in vitro models. Here, we discuss the recently developed technologies that enable the differentiation of skeletal muscle from human induced pluripotent stem cells (iPSCs) of Duchenne and Becker patients. These systems recapitulate key disease features including inflammation and scarce regenerative myogenic capacity that are partially rescued by genetic and pharmacological therapies and can provide a useful platform to study and realize future therapeutic treatments. Implementation of this model also takes advantage of the developing genome editing field, which is a promising approach not only for correcting dystrophin, but also for modulating the underlying mechanisms of skeletal muscle development, regeneration and disease. These data prove the possibility of creating an accurate Duchenne and Becker in vitro model starting from iPSCs, to be used for pathogenetic studies and for drug screening to identify strategies capable of stopping or reversing muscular dystrophinopathies and other muscle diseases.</jats:p> Human induced pluripotent stem cell models for the study and treatment of Duchenne and Becker muscular dystrophies Therapeutic Advances in Neurological Disorders |
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Human induced pluripotent stem cell models for the study and treatment of Duchenne and Becker muscular dystrophies |
| title_unstemmed |
Human induced pluripotent stem cell models for the study and treatment of Duchenne and Becker muscular dystrophies |
| title_full |
Human induced pluripotent stem cell models for the study and treatment of Duchenne and Becker muscular dystrophies |
| title_fullStr |
Human induced pluripotent stem cell models for the study and treatment of Duchenne and Becker muscular dystrophies |
| title_full_unstemmed |
Human induced pluripotent stem cell models for the study and treatment of Duchenne and Becker muscular dystrophies |
| title_short |
Human induced pluripotent stem cell models for the study and treatment of Duchenne and Becker muscular dystrophies |
| title_sort |
human induced pluripotent stem cell models for the study and treatment of duchenne and becker muscular dystrophies |
| topic |
Neurology (clinical) Neurology Pharmacology |
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http://dx.doi.org/10.1177/1756286419833478 |
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2019 |
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175628641983347 |
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<jats:p>Duchenne and Becker muscular dystrophies are the most common muscle diseases and are both currently incurable. They are caused by mutations in the dystrophin gene, which lead to the absence or reduction/truncation of the encoded protein, with progressive muscle degeneration that clinically manifests in muscle weakness, cardiac and respiratory involvement and early death. The limits of animal models to exactly reproduce human muscle disease and to predict clinically relevant treatment effects has prompted the development of more accurate in vitro skeletal muscle models. However, the challenge of effectively obtaining mature skeletal muscle cells or satellite stem cells as primary cultures has hampered the development of in vitro models. Here, we discuss the recently developed technologies that enable the differentiation of skeletal muscle from human induced pluripotent stem cells (iPSCs) of Duchenne and Becker patients. These systems recapitulate key disease features including inflammation and scarce regenerative myogenic capacity that are partially rescued by genetic and pharmacological therapies and can provide a useful platform to study and realize future therapeutic treatments. Implementation of this model also takes advantage of the developing genome editing field, which is a promising approach not only for correcting dystrophin, but also for modulating the underlying mechanisms of skeletal muscle development, regeneration and disease. These data prove the possibility of creating an accurate Duchenne and Becker in vitro model starting from iPSCs, to be used for pathogenetic studies and for drug screening to identify strategies capable of stopping or reversing muscular dystrophinopathies and other muscle diseases.</jats:p> |
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| author | Piga, Daniela, Salani, Sabrina, Magri, Francesca, Brusa, Roberta, Mauri, Eleonora, Comi, Giacomo P., Bresolin, Nereo, Corti, Stefania |
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| description | <jats:p>Duchenne and Becker muscular dystrophies are the most common muscle diseases and are both currently incurable. They are caused by mutations in the dystrophin gene, which lead to the absence or reduction/truncation of the encoded protein, with progressive muscle degeneration that clinically manifests in muscle weakness, cardiac and respiratory involvement and early death. The limits of animal models to exactly reproduce human muscle disease and to predict clinically relevant treatment effects has prompted the development of more accurate in vitro skeletal muscle models. However, the challenge of effectively obtaining mature skeletal muscle cells or satellite stem cells as primary cultures has hampered the development of in vitro models. Here, we discuss the recently developed technologies that enable the differentiation of skeletal muscle from human induced pluripotent stem cells (iPSCs) of Duchenne and Becker patients. These systems recapitulate key disease features including inflammation and scarce regenerative myogenic capacity that are partially rescued by genetic and pharmacological therapies and can provide a useful platform to study and realize future therapeutic treatments. Implementation of this model also takes advantage of the developing genome editing field, which is a promising approach not only for correcting dystrophin, but also for modulating the underlying mechanisms of skeletal muscle development, regeneration and disease. These data prove the possibility of creating an accurate Duchenne and Becker in vitro model starting from iPSCs, to be used for pathogenetic studies and for drug screening to identify strategies capable of stopping or reversing muscular dystrophinopathies and other muscle diseases.</jats:p> |
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| spelling | Piga, Daniela Salani, Sabrina Magri, Francesca Brusa, Roberta Mauri, Eleonora Comi, Giacomo P. Bresolin, Nereo Corti, Stefania 1756-2864 1756-2864 SAGE Publications Neurology (clinical) Neurology Pharmacology http://dx.doi.org/10.1177/1756286419833478 <jats:p>Duchenne and Becker muscular dystrophies are the most common muscle diseases and are both currently incurable. They are caused by mutations in the dystrophin gene, which lead to the absence or reduction/truncation of the encoded protein, with progressive muscle degeneration that clinically manifests in muscle weakness, cardiac and respiratory involvement and early death. The limits of animal models to exactly reproduce human muscle disease and to predict clinically relevant treatment effects has prompted the development of more accurate in vitro skeletal muscle models. However, the challenge of effectively obtaining mature skeletal muscle cells or satellite stem cells as primary cultures has hampered the development of in vitro models. Here, we discuss the recently developed technologies that enable the differentiation of skeletal muscle from human induced pluripotent stem cells (iPSCs) of Duchenne and Becker patients. These systems recapitulate key disease features including inflammation and scarce regenerative myogenic capacity that are partially rescued by genetic and pharmacological therapies and can provide a useful platform to study and realize future therapeutic treatments. Implementation of this model also takes advantage of the developing genome editing field, which is a promising approach not only for correcting dystrophin, but also for modulating the underlying mechanisms of skeletal muscle development, regeneration and disease. These data prove the possibility of creating an accurate Duchenne and Becker in vitro model starting from iPSCs, to be used for pathogenetic studies and for drug screening to identify strategies capable of stopping or reversing muscular dystrophinopathies and other muscle diseases.</jats:p> Human induced pluripotent stem cell models for the study and treatment of Duchenne and Becker muscular dystrophies Therapeutic Advances in Neurological Disorders |
| spellingShingle | Piga, Daniela, Salani, Sabrina, Magri, Francesca, Brusa, Roberta, Mauri, Eleonora, Comi, Giacomo P., Bresolin, Nereo, Corti, Stefania, Therapeutic Advances in Neurological Disorders, Human induced pluripotent stem cell models for the study and treatment of Duchenne and Becker muscular dystrophies, Neurology (clinical), Neurology, Pharmacology |
| title | Human induced pluripotent stem cell models for the study and treatment of Duchenne and Becker muscular dystrophies |
| title_full | Human induced pluripotent stem cell models for the study and treatment of Duchenne and Becker muscular dystrophies |
| title_fullStr | Human induced pluripotent stem cell models for the study and treatment of Duchenne and Becker muscular dystrophies |
| title_full_unstemmed | Human induced pluripotent stem cell models for the study and treatment of Duchenne and Becker muscular dystrophies |
| title_short | Human induced pluripotent stem cell models for the study and treatment of Duchenne and Becker muscular dystrophies |
| title_sort | human induced pluripotent stem cell models for the study and treatment of duchenne and becker muscular dystrophies |
| title_unstemmed | Human induced pluripotent stem cell models for the study and treatment of Duchenne and Becker muscular dystrophies |
| topic | Neurology (clinical), Neurology, Pharmacology |
| url | http://dx.doi.org/10.1177/1756286419833478 |