Osteogenesis Imperfecta is a genetic mutation in one of two genes responsible for collagen protein production. Collagen makes up around thirty percent of your protein content. Found in bones, connective tissues, cartilage, extracellular matrix, vascular system, organs, ligaments, hair, and skin.
This illness impacts Type I collagen protein, lowering the quantity and quality of collagen in the body. Leading to brittle bones, a poor vascular system, tendon and organ damage, and weak skin. In Mild cases the body can form correctly, but is susceptible to easily broken bones, hearing loss, and weakened muscles or ligaments. Extreme cases may developmentally stunt bone growth, organs, and respiratory system growth, creating a weaker phenotype.
Osteogenesis Imperfecta is commonly due to autosomal dominant genetic inheritance from one parent. Yet the disease has been diagnosed from recessive gene inheritance. Even found as a chance mutation in the Collagen producing gene of a newborn without any signs of family inheritance. People with this genetic mutation endure, fracturing ribs in their sleep, breaking leg bones, shortness of breath due to small lungs, and hearing loss at early ages. Living with any type of Osteogenesis Imperfecta requires constant safety measures. Requiring extra padding and cushion, physical therapy, constant dental checkups for the brittle teeth, and many more daily obstacles.
There is no known cure or genetic engineering to reverse the adverse effects of this genetic disease. Statistics show that there are less than 50,000 cases in the United States.