Osteogenesis Imperfecta Research Paper

Collagen is a form

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

“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

Osteogenesis imperfecta is a group of genetic disorders that mainly affect the bones. The term "osteogenesis imperfecta" means imperfect bone formation. People that suffer from this condition have bones that break or fracture easily; also giving it its more well-known name “brittle bone disease”. These bone fractures often occur from mild trauma or even with no apparent cause. There are eight recognized forms of osteogenesis imperfecta, they range from type I to type VIII. The types can be differentiated by their signs and symptoms, although the main characteristic features overlap between each other. Type I is the mildest form while type II is the most severe form of Osteogenesis imperfecta; the other types of this

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.

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

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.

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.

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).

Osteoblast synthesizes very dense, cross linked collagen. Several additional proteins are also produced in smaller quantities including osteocalcin and Osteopontin, which compose the organic matrix of bone(54).

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

     Osteoporosis is a health ailment which causes bones to become so porous that they can break easily. Osteoporosis literally means 'porous bones'. The bones in our skeleton are made of a thick outer shell and a strong inner mesh filled with collagen [protein], calcium salts and other minerals. The inside looks like honeycomb, with blood vessels and bone marrow in the spaces between bone. Osteoporosis occurs when the holes between bone become bigger, making it fragile and liable to break easily. Osteoporosis usually affects the whole skeleton but it most commonly causes breaks or fractures to bone in the wrist, spine and hip.