What Is Osteogensis Imperfecta?

Osteogenisis Imperfecta, or OI in short, is a genetic disorder that mainly affects the bone and skeletal structure of a person. The effects include brittleness of the bones, Early loss of hearing and blue sclera.

Why Does OI Occur?

The main reason of OI occurring is mutations of specific genes, including the COL1A1, COL1A2, CRTAP and LEPRE1 genes.

COL1A1 and COL1A2 Genes:

• The COL1A1 and COL1A2 genes contains the instructions for proteins which are used to create type 1 collagen. Without the proteins, the body cannot create sufficient type 1 collagen, and so causes problems.
• OI is caused by abnormalities in these genes, which either reduces the amount of collagen produced, or create defective collagen.
• OI caused by these two cells contribute to over 90% of all OI patients. However, OI caused by these genes are usually mild.

CRTAP and LEPRE1 Genes:

• CRTAP and LEPRE1 are other genes causes OI. These two genes work mutually to process and create the protein mentioned above. Abnormalities in either gene causes defects in the assembly of proteins. 
• As a result, it weakens connective tissue and causes severe bone deformities.
• OI caused by CRTAP and LEPRE1 genes is rare, but much more severe.

Sporadic (random):

• In some cases, OI can occur without parental influence. These are called sporadic or 'de novo' mutations because it isn't carried on by a parent and happens to random newborn.

Others:

• There are still reasons of OI that researchers are trying to find.