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Integrative Multi-Omics and Network Analyses Reveal Pathogenic and Protective Pathways in Centronuclear Myopathies.

Alix Simon1, Charlotte Gineste1, David Reiss1

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Summary

Centronuclear myopathies (CNMs) involve muscle weakness and altered structure. Integrative multi-omics and network analysis reveal key molecular pathways and potential therapeutic targets for these rare inherited muscle disorders.

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biomarkercentronuclear myopathycongenital myopathygene co-expressionmyotubular myopathynetwork-based analysisomicsskeletal musclesystems biologytherapeutic target

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Area of Science:

  • Genetics and Molecular Biology
  • Neuromuscular Disorders
  • Systems Biology

Background:

  • Centronuclear myopathies (CNMs) are rare inherited muscle disorders causing muscle atrophy and weakness.
  • Mutations in genes like MTM1, DNM2, and BIN1 are primary causes, but underlying molecular mechanisms remain unclear.
  • Current therapeutic options for CNMs are limited, necessitating further research into disease pathways.

Purpose of the Study:

  • To elucidate the molecular pathways involved in CNMs using an integrative multi-omics approach.
  • To identify potential therapeutic targets by analyzing molecular alterations in CNM mouse models.
  • To explore pathogenic and protective mechanisms contributing to CNM progression.

Main Methods:

  • Combined transcriptomic, proteomic, and metabolomic data from CNM mouse models.
  • Utilized network-based approaches, including Weighted Gene Co-expression Network Analysis (WGCNA).
  • Integrated multi-omics data with public knowledge bases into a multilayer network for analysis.

Main Results:

  • Identified gene modules associated with muscle function and disease severity in CNMs.
  • Modules linked to improved function were enriched in muscle contraction and oxidative phosphorylation.
  • Modules linked to disease severity showed enrichment in immune response and fatty acid oxidation pathways.
  • Highlighted specific metabolites potentially relevant for therapeutic intervention in CNMs.

Conclusions:

  • Integrative multi-omics and network analyses effectively reveal complex molecular pathways in CNMs.
  • Findings provide a foundation for identifying novel therapeutic strategies for these inherited muscle disorders.
  • Identified potential targets for nutritional or pharmacological modulation in CNM treatment.