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Myofibrillar Myopathies: New Perspectives from Animal Models to Potential Therapeutic Approaches
Sabrina Batonnet-Pichon1, Anthony Behin2, Eva Cabet1
1Unité de Biologie Fonctionnelle et Adaptative, Université Paris Diderot, Sorbonne Paris Cité, CNRS, UMR, Paris, France.
Abstract:
Myofibrillar myopathies (MFMs) are muscular disorders involving proteins that play a role in the structure, maintenance processes and protein quality control mechanisms closely related to the Z-disc in the muscular fibers. MFMs share common histological characteristics including progressive disorganization of the interfibrillar network and protein aggregation. Currently no treatment is available. In this review, we describe first clinical symptoms associated with mutations of the six genes (DES, CRYAB, MYOT, ZASP, FLNC and BAG3) primary involved in MFM and defining the origin of this pathology. As mechanisms determining the aetiology of the disease remain unclear yet, several research teams have developed animal models from invertebrates to mammalians species. Thus we describe here these different models that often recapitulate human clinical symptoms. Therefore they are very useful for deeper studies to understand early molecular and progressive mechanisms determining the pathology. Finally in the last part, we emphasize on the potential therapeutic approaches for MFM that could be conducted in the future. In conclusion, this review offers a link from patients to future therapy through the use of MFMs animal models.
Insights
Myofibrillar myopathies (MFMs) are genetic muscle disorders. This review details their causes, symptoms, and highlights animal models for understanding disease mechanisms and developing future therapies.
Area of Science:
- Biochemistry
- Genetics
- Neurology
Background:
- Myofibrillar myopathies (MFMs) are a group of genetic muscle disorders affecting myofibrillar structure and Z-disc proteins.
- Hallmarks include progressive disorganization of the muscle fiber network and protein aggregation, with no current treatments.
- Six key genes (DES, CRYAB, MYOT, ZASP, FLNC, BAG3) are primarily implicated.
Purpose of the Study:
- To review the clinical manifestations and genetic origins of MFMs.
- To survey existing animal models for studying MFM pathogenesis.
- To discuss potential future therapeutic strategies for MFMs.
Main Methods:
- Literature review of clinical symptoms, genetic mutations, and animal models of MFMs.
- Analysis of histological characteristics and protein aggregation in MFM.
- Exploration of therapeutic avenues based on research findings.
Main Results:
- Detailed description of clinical symptoms linked to mutations in six primary MFM genes.
- Overview of various animal models (invertebrate to mammalian) that mimic human MFM phenotypes.
- Identification of animal models as crucial tools for understanding disease mechanisms.
Conclusions:
- Animal models are vital for elucidating the molecular and progressive mechanisms of MFMs.
- This review connects patient understanding to potential future therapies via MFM models.
- Further research using these models could pave the way for effective MFM treatments.
