The effect of carbamazepine on bone structure and strength in control and osteogenesis imperfecta (Col1a2^+/p.G610C) mice

Abstract

The inherited brittle bone disease osteogenesis imperfecta (OI) is commonly caused by mutations that compromise the biosynthesis or structure of type I collagen, the predominant organic structural component of bone. The two collagen I α-chain subunits, α1(I) and α2(I), which form the [α1(I)] 2 α2(I) collagen protein trimers are encoded by COL1A1 and COL1A2. Autosomal dominant mutations in these genes cause more than 85% of OI cases 1,2 and fall into two broad functional groups. Mutations that reduce collagen I