Mutations in the COL1A1 and COL1A2 genes, which produce type I collagen, are found in 85%-90% of osteogenesis imperfecta (OI) patients, leading to weak bones and skeletal deformities.
The study used mouse models to explore the effects of monoclonal antibodies targeting activin A and myostatin on muscle and bone in both normal and OI-affected mice.
Results showed that while myostatin inhibition increased muscle mass in all mice, none of the treatments significantly improved bone structure, particularly in cortical bone, highlighting limitations in using these pathways for treating bone-related issues in OI.