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Causes and Effects of Osteogenesis Imperfecta

Osteogenesis imperfecta, also known as Brittle Bone disease is one of the rarest bone diseases affecting children. Brand, Tyagi and Rubin (2019) described it as a metabolic bone disease caused by genetic mutations in the genes responsible for the synthesis of collagen 1, resulting in bones being abnormally fragile. It is a very rare disease. The National Institutes of Health carried out a recent calculation deducing that only 1 in 10,000 to 20,000 newborns in the United States of America carry this disease (NIH,2019). According to Marini and Smith (2015), in addition to the disease being infrequent, it can affect any American child. Regardless of their gender, ethnicity or social group. The disease has a broad spectrum, with 19 different types. Yet, they all have the same cause. Osteogenesis Imperfecta is caused by genetic mutations and its effects include physical abnormalities, fractures and hearing loss.
Genetic mutations cause Osteogenesis Imperfecta. The mutation occurs in one of the several genes that are responsible for bone formation. It could occur spontaneously or could be inherited from an affected parent. Johnston (2001) states that Spontaneous mutations appear as a result of natural phenomena, like errors in the mechanism of DNA replication or in the base sequence which results in an altered gene. In other cases, the gene is already present in the maternal or paternal DNA and is transmitted to the fetus. Womack (2014) explains that OI is developed due to the alteration of several genes, however, after clinically testing a group of American children, it was found that approximately 90% of all cases are caused by mutations in the genes responsible for the synthesis of type 1 collagen which are known as COL1A1 and COL1A2. Type 1 collagen is the most abundant protein in the bone structure, it is known as the “framework” of bone and it could be altered in many ways. The type of OI the patient develops depends on how collagen is changed. For example, in type I the mutation does not change the structure of the collagen molecule but it changes the amount in which it is produced. In types II, III and IV the structures of the collagen molecules are altered. Thus, leads to abnormal type 1 collagen and those types are the most severe in infants(NIH,2019). All things considered, Osteogenesis Imperfecta is a disease that has several types and is caused by changes in the collagen-producing gene which results in the production of collagen in poor quality or no production at all.
Furthermore, the effects of OI vary a great deal from one person to the other and they also depend on the type of OI of the patient but the most common effects are bone deformities, fractures and hear loss. Collagen type 1 is the most crucial component of the bone matrix. Therefore, the lack of or presence of defected collagen causes complications. Such complications include underdevelopment of bone and incorrect tissue structures during the growth period of children, which leads to bone deformities such as bowlegs and scoliosis. As well as extremely fragile and brittle bone that could be easily fractured by the least amount of physical contact (Deiana et al. 2018). Moreover, hearing loss is considered as a significant clinical feature in many patients with IO. Pillion, Vernick and Shapiro (2011) found that 40% of American children diagnosed with Osteogenesis imperfecta suffer from hearing loss. Pillion et al. (2011), explained that the reason behind this is the abnormal bone formation and structure of the cochlea and surrounding structures, As well as being prone to skull fractures which are associated with hearing loss. As has been mentioned previously, IO does not affect every person the same way but the most common include bone deformities, fractures and hear loss.
In conclusion, Osteogenesis Imperfecta is a rare bone disease affecting American children at a young age. There are 19 different varieties of the disease. It is caused by a genetic mutation in the collagen-producing genes, leading to insufficient amounts or damage to its molecular structure. In consequence, the affected children suffer from bone deformities, fractures and hearing loss. My friends told me about the website I’ve found there a lot of sociology research topic ideas. It helped me to write my own assignments.