Osteogenesis Imperfecta Research Paper
Imperfection is prominent in our society; it contains war, greed, sickness. Osteogenesis Imperfecta (OI) is a group of genetic disorder that attacks the bones, making them fragile and weak, easy to break. Throughout a person’s lifetime with OI, a person may experience a few fractures to common breaks in the bone, due to trauma or everyday tasks. Different types of OI have been established to accommodate the wide range of the disease, from Type I to Type VIII. Because of those with more severe Osteogenesis Imperfecta, people have begun referring to the disease as brittle-bone disease, fragile-bone disease, and blue-sclera syndrome due to the blue “whites” of the eyes of patients with OI. One of the first cases of Osteogenesis Imperfecta was
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Most of the causes of the disease come from defects mainly in the COL1A1 and COL1A2 genes. Responsible for the production of a major protein in bone and connective tissue, defects in these genes reduce the amount of collagen in our bodies, weakens the connective tissues, and creates future problems with the growth of bones. More than ninety percent of all cases of OI come from mutations in the COL1A1 and COL1A2 genes, located on chromosome 17 and 7 in the bodies. Both of these genes instruct proteins for collagen assembly. Thus, problems on the COL1A1 and COL1A2 genes ultimately create the hallmark of OI, brittle bones and teeth that fracture easily; Types I, II, III, and IV have arised from COL1A1 and COL1A2 genes mutations. However, mutations in the CRTAP, and P3H1 genes create more rarer cases of Osteogenesis Imperfecta, where doctors and scientists have referred to the cases as type VII and VIII. Unlike the COL1A1 and COL1A2 genes, CRTAP, and P3H1 genes are responsible for the actual assembly and secretion of the collagen molecules. The types of Osteogenesis Imperfecta are inherited differently, depending on the type of the disease. Most of the people with Type I and Type IV are transmitted the disease while inheriting a single copy of the mutated gene from a parent who already has OI; thus, their …show more content…
If OI was present in the parents’ family, testing is often recommended while the baby is still in the womb. Even though there is no way to detect whether or not the parent is a carrier for OI, prenatal diagnosis can reveal the offspring’s health. Ultrasound are the least invasive method of testing; the doctor checks the baby’s bone structure for any flaw through a monitor. Another method of prenatal diagnosis, Chorionic Villus Sampling, examines the placental cells and checking the collagen protein levels or any genetic mutations; this method does risk for miscarriage, with rare odds. Amniocentesis is used to analyze the fetal cells that shed in the amniotic fluid. All the cells hold the genes that can cause the disorder, allowing doctors to check for any irregularity. There are different methods to diagnose a fetal, but, once the baby is out, most diagnosis occurs after the child begins exhibiting
Most of the causes of the disease come from defects mainly in the COL1A1 and COL1A2 genes. Responsible for the production of a major protein in bone and connective tissue, defects in these genes reduce the amount of collagen in our bodies, weakens the connective tissues, and creates future problems with the growth of bones. More than ninety percent of all cases of OI come from mutations in the COL1A1 and COL1A2 genes, located on chromosome 17 and 7 in the bodies. Both of these genes instruct proteins for collagen assembly. Thus, problems on the COL1A1 and COL1A2 genes ultimately create the hallmark of OI, brittle bones and teeth that fracture easily; Types I, II, III, and IV have arised from COL1A1 and COL1A2 genes mutations. However, mutations in the CRTAP, and P3H1 genes create more rarer cases of Osteogenesis Imperfecta, where doctors and scientists have referred to the cases as type VII and VIII. Unlike the COL1A1 and COL1A2 genes, CRTAP, and P3H1 genes are responsible for the actual assembly and secretion of the collagen molecules. The types of Osteogenesis Imperfecta are inherited differently, depending on the type of the disease. Most of the people with Type I and Type IV are transmitted the disease while inheriting a single copy of the mutated gene from a parent who already has OI; thus, their …show more content…
If OI was present in the parents’ family, testing is often recommended while the baby is still in the womb. Even though there is no way to detect whether or not the parent is a carrier for OI, prenatal diagnosis can reveal the offspring’s health. Ultrasound are the least invasive method of testing; the doctor checks the baby’s bone structure for any flaw through a monitor. Another method of prenatal diagnosis, Chorionic Villus Sampling, examines the placental cells and checking the collagen protein levels or any genetic mutations; this method does risk for miscarriage, with rare odds. Amniocentesis is used to analyze the fetal cells that shed in the amniotic fluid. All the cells hold the genes that can cause the disorder, allowing doctors to check for any irregularity. There are different methods to diagnose a fetal, but, once the baby is out, most diagnosis occurs after the child begins exhibiting