Muscle transcriptome in mouse models of osteogenesis imperfecta.

摘要: Osteogenesis imperfecta (OI) is a heritable connective tissue disorder that most often caused by mutations in collagen type I encoding genes. Even though bone fragility the conspicuous finding OI, muscle system also affected. In present study we explored phenotype related to on transcriptome level. RNA sequencing was performed gastrocnemius muscles of homozygous oim mice and heterozygous Jrt mice, two models severe OI. We found shared 27 differentially expressed genes, which 11 were concordantly upregulated 15 downregulated. Gene Set Enrichment Analysis revealed both genes involved 'metabolism lipids' significantly enriched among addition, several coding for extracellular matrix components mice. Among downregulated 'muscle contraction' OI mouse models. These coded slow-twitch fiber components. Another gene Mss51, metabolic stress-inducible factor mitochondria. data show share abnormalities expression code proteins, lipid energy metabolism structural proteins fibers. The disturbances resulting from these could be viewed as mild form dystrophy.