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Published on: September 12, 2020
Myotonic dystrophy mouse models: towards rational therapy development
Mário Gomes-Pereira1, Thomas A Cooper, Geneviève Gourdon
1Inserm U781, Université Paris Descartes, Faculté de Medicine Necker Enfants Malades, Paris, France. mario.pereira@inserm.fr
Abstract:
DNA repeat expansions can result in the production of toxic RNA. RNA toxicity has been best characterised in the context of myotonic dystrophy. Nearly 20 mouse models have contributed significant and complementary insights into specific aspects of this novel disease mechanism. These models provide a unique resource to test pharmacological, anti-sense, and gene-therapy therapeutic strategies that target specific events of the pathobiological cascade. Further proof-of-principle concept studies and preclinical experiments require critical and thorough analysis of the multiple myotonic dystrophy transgenic lines available. This review provides in-depth assessment of the molecular and phenotypic features of these models and their contribution towards the dissection of disease mechanisms, and compares them with the human condition. More importantly, it provides critical assessment of their suitability and limitations for preclinical testing of emerging therapeutic strategies.
Insights
Mouse models of myotonic dystrophy reveal toxic RNA mechanisms and offer insights into therapeutic strategies. This review assesses their utility for preclinical drug and gene therapy testing.
Area of Science:
- Molecular Biology
- Genetics
- Neurology
Background:
- DNA repeat expansions cause toxic RNA production, a mechanism well-studied in myotonic dystrophy.
- Over 20 mouse models have elucidated various aspects of this disease mechanism.
Purpose of the Study:
- To provide an in-depth assessment of molecular and phenotypic features of myotonic dystrophy mouse models.
- To critically evaluate the suitability and limitations of these models for preclinical therapeutic strategy testing.
Main Methods:
- Review of existing literature on myotonic dystrophy mouse models.
- Comparative analysis of molecular and phenotypic data.
- Assessment of preclinical therapeutic strategy testing capabilities.
Main Results:
- Mouse models offer significant insights into toxic RNA-mediated disease mechanisms.
- These models are valuable resources for testing pharmacological, anti-sense, and gene therapy approaches.
- Critical analysis reveals both strengths and weaknesses of different transgenic lines for preclinical studies.
Conclusions:
- Myotonic dystrophy mouse models are crucial for understanding disease pathogenesis.
- Careful selection of appropriate models is essential for effective preclinical testing of novel therapies.
- Further research using these models will accelerate the development of treatments for myotonic dystrophy.
