Osteogenesis Imperfecta: A Heterogeneous Heritable Disease

Bone is a dynamic organ, able to replace old or disrupted tissue through a remodelling process. It contains a relatively small number of cells (osteoblasts, osteocytes, osteoclasts and Mesenchymal Stem Cells (MSCs)) entrenched in a matrix. Perturbation or disruption of the complex molecular pathways controlling MSC proliferation and osteogenic commitment may be determined by mutations affecting key genes in bone development. Osteogenesis Imperfecta (OI) also known as brittle bone disease is a genetic pathology in which bones do not form properly and therefore are fragile and break easily. OI is a heterogeneous congenital heritable disease that mainly affects connective tissues. Nowadays we number 18 types of OI, characterized by various modes of inheritance: autosomal dominant, recessive and X-linked