Osteogenesis Imperfecta Research Paper

Osteogenesis Imperfecta, also known as Brittle Bone Disease, is a disease that effects bones and joints. Osteogenesis Imperfecta is a disease that effects child, and most often children are born with this disease. In some cases the disease may take a couple years to show symptoms, but more often than not the disease is recognized when the child is born. “Osteogenesis Imperfecta is caused by a defect in the gene which produces collagen 1, an important building block of bone” (Osteogenesis). The bones are very fragile, and often times break when touched or moved. The severity of the disease depends on which portion of the gene is affected. If a child is lucky, the disease may only affect a small portion of the gene, which would make the

The hallmark feature of Osteogenesis Imperfecta is fragile bones that fracture easily. Osteogenesis Imperfecta affects both bone quality and quantity (i.e. bone mass).

It is characterized by the severe skeletal deformity, weak bone mineralization and multiple fractures intrauterine, prior to birth. OI type III is the most severe of the 4 most common that is compatible with life after the perinatal period. A progressive skeletal deformity is present, sometimes present in the birth. Due to this, in the adult age those affected usually present short stature, in addition to being generally dependent on wheelchairs for the rest of their lives, without treatment. Patients often present with fractures soon after birth and in the adult period. Dentinogenesis imperfecta is very common, mainly in the first dentition, such as progressive hearing loss with age. The most variable group clinically, In OI type IV, the effect goes from mild to severe. Usually dentinogenesis imperfecta, not so much the hearing loss; The height is relatively low according to the degree of skeletal deformity, sclera is usually normal, and most of the patients can wander. OI type V has moderately deforming, without blue sclera or dentinogenesis imperfecta. It is characterized by hypertrophic calluses at fracture sites and the mineralization of interosseous membranes. The molecular cause is unknown but heredity appears to be autosomal dominant. OI type VI goes from moderate to severe deforming, without blue sclera or

Imagine that he lets out a cry when being bathed, and you later learn that he has multiple fractures in his femur. Imagine learning that during birth he has fractures many ribs and X-rays show that he has several more healed fractures. This disorder is known as osteogenesis imperfecta, a genetic disorder that causes bones to be very fragile and to break easily. In most OI cases, there is a deformity that affects all structures that are made up of Type 1 collagen, like bones, cartilage, and ligaments. This deformity is based on a mutation that causes the genes encoding for type 1 collagen to be effected, and in turn reduces the amount of collagen in the bones. This mutation, most commonly known to be autosomal dominant, can lead to many different types of OI, ranging from a few fractures a year to prenatal death. We need more innovative approaches and better solutions to find a cure for this disease instead of just using braces and surgery that only improves living condition, but does not give patients a normal

Biochemical and molecular studies have shown that the vast majority (about 90 percent) of osteogenesis imperfecta (types I, II, III, and IV) are caused by a single dominant mutation in either COL1A1 or COL1A2. These genes carry instructions for making proteins that make larger molecules called type 1 collagen (main protein in bone and skin), which is the most abundant form of all collagen in the human body. The other forms of OI are caused by a recessive mutation in the CRTAP, and P3H1 genes, which often are more rare forms of OI. OI Type VII is caused by the CRTAP gene and OI type VIII is caused by P3H1. These genes produce proteins that work together in forming collagen in its mature form. If either gene has a mutation, it causes weakening of connective tissues, bone abnormalities, and bone growth issues. The gene that causes OI types V and VI are unknown; however people with these two forms do not have mutations in the type 1 collagen genes.

Osteoporosis is a medical condition in which bones become brittle and fragile as a result of tissue loss. Causes of osteoporosis include hormonal changes, deficiency of vitamin D, and, most commonly, deficiency of calcium. Bones affected by osteoporosis are easily fractured, and such fracturing most often occurs in the hip, wrist, or spine. Under normal circumstances, bone tissue is constantly being broken down and subsequently replaced by the human body; however, osteoporosis prevents the creation of new bone. As a result, a net loss of bone tissue occurs since no new tissue is available to replace the old tissue. With age, bone mass loss increases faster than does bone mass creation. There is currently no known cure for the disease. Osteoporosis

“This process generally becomes noticeable in early childhood, starting with the neck and shoulders and proceeding down the body and into the limbs.” (Genetic Home Reference, 1). One indicator of the presence of the disease is the malformation of a newborn’s hallux, the hallux of a newborn will have an abnormal angulation facing the median of its foot. “Other skeletal malformations of the cervical spine and ribs and the abnormal development of bone at multiple soft tissue sites may lead episodically to stiffness in affected areas, limited movement, and eventual ankylosis of affected joints (neck, shoulders, elbows, hips knees, wrists, ankles, jaw, often in that order).” (NORD,1). FOP is a very rare genetic disorder, “It was first identified in the 17th century. Of an estimated 3000 affected individuals worldwide, there are approximately 800 known patients. This disorder affects both genders and all ethnicities.” (NORD,1). Since the disease is a genetic one, it is not spread through a contagious pathway. It results from an autosomal dominant pattern. Mutations in the ACVR1 gene cause fibrodysplasia Ossificans Progressiva. The ACVR1 gene provides instructions for producing a member of a protein family called bone morphogenetic protein (BMP) type I receptors.” (Genetic Home Reference, 1). Experts, who have done extensive research believe that the

Type I collagen clearly contributes to the integrity and strength of bone matrix, and defects in its production leads to bone of poor quality, susceptible to fracture( Kini and Nandeesh 2012). Type I collagen is a triple helical structure consisting of two identical a1 chains and one a2 chain with a non-helical region where the N-telopeptide and C-telopeptide join to the crosslinks (Brown et al.,2009; Bergmann et al., 2009 ; Seibel 2005). During type I collagen synthesis, pro-peptides are released both from the N-terminal and C-terminal ends of the procollagen molecule, after the three individual alpha chains have created the triple helix, which will become part of the collagen fibril( Kini and Nandeesh

What if you couldn’t clap your hands without breaking a bone? Not many people have to worry about this problem, but kids with osteogenesis imperfecta have to worry about it every day. Osteogenesis imperfecta, also known as brittle bone disease is a genetic disorder characterized by bones that break easily, often from little or no apparent cause (Foundation). “Osteogenesis imperfecta is relatively rare. Approximately 20,000 to 50,000 people in the United States have the condition.” (American Academy of Orthopaedic Surgeons).

Fibroblasts are the most common connective tissue cell present in the body where their primary role is maintaining the structural integrity of connective tissue. Fibroblasts are dispersed through the dense tissue where they produce a collagen subunit, tropocollagen, which is used to assemble larger collagenous aggregates. They also produce glycosaminoglycans, elastic fibers, reticular fibers, and glycoproteins to create an extracellular matrix (ECM). Fibroblasts, collagen and ECM provide the framework for , otherwise referred to as theor “stroma” in animal

Osteogenesis Imperfecta (OI), or known as “brittle bone disease,” is a rare genetic disease that causes weak bones that may break easily. “OI is caused by a mutation (change) in a gene that affects bone formation, bone strength and the structure of other tissues.” (+++++++) From infancy through puberty, people with OI can expect frequent bone injuries but, injuries decrease in young adult years. Bone injuries may come back during old age.

The disorder osteoporosis is when the bone tissue is more porous and thinner than the average healthy human. Osteoporosis is the most common bone disorder affecting Americans today. The main disadvantages caused by this disorder are weakened bones, they are substantially weaker and can hardly bear weight. Which makes the person suffering from osteoporosis more susceptible to fractures. There are several factors that influence the risks such as age, gender, genetics, smoking, nutrition and physical activity levels.

Tooth enamel, the hard, outer layer of our teeth, is composed almost exclusively of the mineral hydroxyapatite, making it the hardest tissue in the body. While it helps create beautiful smiles, enamel’s most important role is in protecting the softer, inner layers of the teeth. However, occasionally a child’s teeth develop without the normal layer of enamel. And because no enamel on teeth, can put your child at risk for dental complications, here’s what you need to know about amelogenesis imperfecta.

Different etiological factors cause Bone defects , like trauma, tumors, and infections. Too large defects are is not easy heal in a spontaneously, this defect is named a serious size defect ,which is well-defined as minimum magnitude of an intraosseous injury so ,it will not cured naturally during the man lifetime. (2) In this circumstance, undesired soft tissue proliferation in the bone weakness inhibits with the wound healing procedure and disturbs bone forming cells proliferation from the periphery of the defect.

As the connective tissues is made up of protein called fibrillin-1 and mutation in this this protein causes increase in a transforming growth factor beta protein, or TGF-β which is responsible for developing the problems with connective tissue around the body