Osteogenesis Imperfecta Cause

There are various symptoms in Osteogenesis Imperfecta because there are eight recognized forms of Osteogenesis Imperfecta which are designated from I to VIII. Type I is a mild form of OI whereas Type II is a severe form. Furthermore, Type III to VIII is in between these two extremes and the known cause for OI is simply genetics. Geneticists have found that the cause of OI comes from mutations occurring to genes. In fact, they have pinpointed the mutations to the genes: COL1A1, COL1A2, CRTAP, and LEPRE1.

What do these genes do? COL1A1 (Collagen, Type I, Alpha I) and COL1A2 (Type I, Alpha II) are responsible for making Type I Collagen which is necessary for supporting bones which contributes to ninety percent of OI. CRTAP (Cartilage Associated Protein) plays an important role for bone development; therefore, if there were a mutation to the gene that does this, then it is likely that bone development does not correctly form. LEPRE1 is responsible for making an enzyme called Leprecan or Proyl-3 Hydroxylase 1. The purpose of this enzyme is modifies the amino building block in collagen for normal folding and assembly of collagen. If the mutations were not found on these four genes, then the cause of OI is unknown. In fact, OI Type V and Type VI are known cases of this. Ultimately, these genes cause the bones to be brittle and more susceptible to bone fractures.