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Muscle transcriptome in mouse models of osteogenesis imperfecta
Pierre Moffatt1, Iris Boraschi-Diaz2, Ghalib Bardai3
1Shriners Hospital for Children-Canada, Montreal, Quebec, Canada; Department of Human Genetics, McGill University, Montreal, Quebec, Canada.
Bone
|April 3, 2021
Summary
Osteogenesis imperfecta (OI), a genetic disorder affecting collagen, impacts muscle function. This study reveals shared gene expression changes in muscle, including altered lipid metabolism and muscle contraction pathways in mouse models.
Area of Science:
- Genetics
- Molecular Biology
- Biochemistry
Background:
- Osteogenesis imperfecta (OI) is a heritable connective tissue disorder primarily affecting bone fragility due to collagen type I gene mutations.
- Muscle system involvement is recognized in OI, but its molecular basis remains less understood.
Purpose of the Study:
- To investigate the muscle-specific transcriptome alterations in mouse models of severe OI.
- To identify shared molecular pathways affected by collagen type I mutations in muscle tissue.
Main Methods:
- RNA sequencing was performed on gastrocnemius muscles of homozygous oim mice and heterozygous Jrt mice, two established models of severe OI.
- Differential gene expression analysis and Gene Set Enrichment Analysis (GSEA) were employed to identify affected pathways.
Main Results:
- A total of 27 differentially expressed genes were shared between the two OI mouse models.
- Upregulated genes were enriched in lipid metabolism and extracellular matrix components.
- Downregulated genes were enriched in muscle contraction pathways, particularly those related to slow-twitch type I muscle fibers, and included Mss51, a mitochondrial factor.
Conclusions:
- Two severe OI mouse models exhibit concordant muscle transcriptome abnormalities, affecting extracellular matrix, lipid metabolism, and muscle fiber structure.
- These findings suggest that collagen type I mutations lead to molecular muscle disturbances resembling a mild form of muscular dystrophy.
