Osteogenesis Imperfecta (OI) is a genetic disorder that affects the formation of bones. The term Osteogenesis Imperfecta literally means imperfect bone formation. People with OI have bones that break easily, usually caused by a mild trauma or no cause at all. Multiple fractures are common with this disease since bones are weak. Although, in severe cases fracture of bones can occur before birth. This disease is caused by defective connective tissue and the lack of Type One Collagen. There are eight recognized forms of Osteogenesis Imperfecta ranging from Type I to Type VIII. Different signs and symptoms can differentiate the eight types of OI. My research is focused on OI Type I, which by the way is the mildest and least severe form of this
…show more content…
Which means that it is not a common disease. Yet, OI Type I is the most common form of OI, about half of the patients diagnosed with OI are diagnosed with Type I. This disease is sometimes hereditable which means that it is passed down from generation to generation. According to an online article in Genetics Home Reference web site, “It has and autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the condition.”- (2013). This disease can also result from a random mutation in one of the genes of the individual. “Mutations in the COL1A1 alpha 1(found in chromosome17), COL1A2 alpha 2(found in chromosome 7), CRTAP, and P3H1 genes causes Osteogenesis Imperfecta”.-Genetics Home Reference (2013). Which means gene COL1A1 and COL1A2 give instructions into making proteins to create Collagen Type One. Collagen Type One is the most important protein to the bone and other connective tissue, because it provides strength to the bone body. Although both COL1A1 and COL1A2 are causes of OI Type I, COL1A1 gene is the one responsible for most mutations leading to OI Type I. COL1A1 is responsible for the reduction of Collagen Type One, thus, weakening the bones. The reduction of Collagen Type One disrupts the normal folding and secretion of collagen, this weakens the connective tissue leading to bone abnormalities, therefore, leading to abnormal anatomical
Which means that it is not a common disease. Yet, OI Type I is the most common form of OI, about half of the patients diagnosed with OI are diagnosed with Type I. This disease is sometimes hereditable which means that it is passed down from generation to generation. According to an online article in Genetics Home Reference web site, “It has and autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the condition.”- (2013). This disease can also result from a random mutation in one of the genes of the individual. “Mutations in the COL1A1 alpha 1(found in chromosome17), COL1A2 alpha 2(found in chromosome 7), CRTAP, and P3H1 genes causes Osteogenesis Imperfecta”.-Genetics Home Reference (2013). Which means gene COL1A1 and COL1A2 give instructions into making proteins to create Collagen Type One. Collagen Type One is the most important protein to the bone and other connective tissue, because it provides strength to the bone body. Although both COL1A1 and COL1A2 are causes of OI Type I, COL1A1 gene is the one responsible for most mutations leading to OI Type I. COL1A1 is responsible for the reduction of Collagen Type One, thus, weakening the bones. The reduction of Collagen Type One disrupts the normal folding and secretion of collagen, this weakens the connective tissue leading to bone abnormalities, therefore, leading to abnormal anatomical