Osteogenesis Imperfecta Research Paper

Osteogenesis Imperfecta is a genetic disorder that causes extremely brittle bones. This disease can cause bones to break, people can have hundreds of fractures throughout their lifetime due to Osteogenesis Imperfecta. Most of Osteogenesis Imperfecta cases are caused by a dominant genetic mutation which would be types 1-4. Types 5 -8 are inherited by a recessive mutation. Although in some rare occasions is could be a new genetic mutation. The term “Osteogenesis Imperfecta” was originated by W. Vrolik in 1849. Osteogenesis Imperfects dates back to 1000 BC with the case being found in an Egyptian mummy. In 1678 Osteogenesis Imperfecta was considered fetal rickets which at that time were common. In that time when fetal rickets were discovered doctors believed that the cause was the expectant mother watched someone being tortured. Now that science has advanced we are able to conclude that Osteogenesis Imperfecta is caused by dominant genes which means that only out set of mutated genes is enough to carry this disease. This also means that Osteogenesis Imperfecta does not have a cure and scientists don’t foresee there being one anytime soon. …show more content…
When the human body has too little collagen or poor quality the bones begin to weaken and caused them to break without a specific reason. Collagen plays a huge part in the human body it is the main protein of the connective tissue. Types 5 and 6 are not caused by the type 1 collagen mutation but the caused have not yet been identified. In 2006 Osteogenesis Imperfecta type 7 and 8 were discovered these do not have a dominant genetic formation but in some way they do affect the development of collagen. The most frequent symptoms of Osteogenesis Imperfecta would be below average stature, fragile skin, weak muscles, frequent nose bleeds, blue tinting in the white part of the eyes, and curving of the