Abstract-
In order to study the gene mutation that is supposed to cause Paget’s Bone Disease researchers had to have viable candidates to host the gene mutation. They found the best candidate to host the gene mutation in mice so they implanted the gene mutation in embryos of mice offspring. The researchers hypothesized that p62P394L is sufficient to induce PDB, especially since the p62 gene is responsible for encoding 62 kDa protein which functions in signaling osteoclast precursors. Results were found by fixing the first through fifth lumbar vertebra of four, eight, and twelve month old homozygote, heterozygote and WT littermates in 10% buffered formalin for 24- 48 hours. The first through fourth vertebra were then completely decalcified while the fifth was not. Longitudinal sections of both decalcified and undecalcified vertebra were cut, mounted on glass slides and stained to analyze. The mice with p62P394L had histologically normal bones, indicating that p62 mutation is not enough to induce Paget’s disease of the bone in vivo, there are additional factors necessary. Knowing osteitis deformas is due to hyper responsive multinucleated osteoclasts, it seemed a sensible suggestion. However, there are many other variables that should be factored when considering possible causes for osteoclast hyperformation. If p62P349L is present, doesn’t necessarily mean a person will get PDB, though an environmental factor such as measles could easily open up transduction pathways that could eventually lead to pagetic bone lesions. We find this study to be a stepping stone for future researchers to use in order to actually identify what causes Paget’s bone disease. (Hiruma, Kurihara, Subler, Zhou, Boykin, Zhang, Ishizuka, Dempster, Roodman & Wi...
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...ll understood simply because of the numerous genetic and environmental factors possible in causing any part of PDB, either by over stimulating osteoclast precursors, genetic mutations, producing transduction pathways that would otherwise not be present or even signals misfiring or over active parathyroid gland. Much more isolated research is necessary before this disease can be fully understood.
Works Cited
Hiruma, Y., Kurihara, N., Subler, M., Zhou, H., Boykin, C., Zhang, H., et al. (2008). A SQSTM1/p62 mutation linked to Paget’s disease increases the osteoclastogenic potential of the bone microenvironment. Human Molecular Genetics, 17(23), 3708-3719. Retrieved June 12, 2010, from the PubMed database.
Ooi, C., & Fraser, W. (1997). Paget's disease of bone. The Fellowship of Postgraduate Medicine, 73, 69-74. Retrieved June 12, 2010, from the PubMed database.
However some of the basic bone functions include storing of crucial nutrients, minerals and lipids, producing red blood cells for the body, protect the organs such as heart, ribs and the brain, aide in movement and also to act as a buffer for pH. With the differences in all of the bones there are four things that remain the same in each bone, their cells. Bones are made up of four different cells; osteoblasts, osteoclasts, osteocytes and bone lining cells. Osteoblasts produce and secrete matrix proteins and then transport the minerals into the matrix. Osteoclasts are responsible for the breaking down of tissue. The osteoblasts and osteoclasts are both responsible for remodeling and rebuilding of bones as we grow and age. The production of osteoclasts for resorption is initiated by the hormone, the parathyroid hormone. Osteocytes are the mature versions of osteoblasts because they are trapped in the bone matrix they produced. The osteocytes that are trapped continue making bone to help with strength and the health of the bone matrix. The bone lining cells are found in the inactive bone surfaces which are typically found in
An osteoblast is a “baby” bone cell whose main job is to secrete osteoid which forms the hardened, or calcified, bone matrix. Osteocytes are formed from osteoblasts. Osteocytes are the mature bones cells that have been completely differentiated. They are found in the lacunae of hard bone and have a spider-like appearance due to their canaliculi. Osteoclasts are a different type of cell formed from the mesenchymal cells. These cells are not related to osteoblasts or osteocytes. Their job is to basically “eat” the bone to create cavities and other hallow spaces during bone remodeling. Finally, the cells form differentiate to form fibroblasts and fibrocytes. These fibroblasts and fibrocytes secrete and form the matrix for fibrous connective tissue which is an essential component of the
Osteogenesis Imperfecta (OI), also called fragile bone ailment or Lobstein disorder, is an inherent bone issue portrayed by weak bones that are inclined to break effortlessly with practically zero cause. A arrangement of various sorts of OI is regularly used to depict how seriously a man with OI is affected.OI is brought on by hereditary deformities that influence the body's capacity to make solid bones. In predominant established OI, a man has too little sort I collagen or a low quality of sort I collagen because of a transformation in one of the sort I collagen qualities which makes the bones
Osteoporosis is a condition, which advances with age, resulting in fragile, weak bones due to a decrease in bone mass. Externally osteoporotic bone is shaped like normal bone, however it’s internal appearance differs. Internally the bone becomes porous due to a loss in essential minerals, including phosphate and calcium. The minerals are loss more quickly than they can be replaced and in turn cause the bones to become less dense and weak. The bones become prone to fracture, due to their weakness. Therefore the awareness of the disease tends to occur after a fracture has been sustained. The bones most commonly affected are the ribs, wrist, pelvis and the vertebrae.
Osteoporosis is a condition, in which bones are weak from deterioration, loss of bone mass, and quality-bone strength. Osteoporosis usually triggers postmenopausal women (women who have not had their period for a whole year), or older men and women. Some risks both older men and women endure when experiencing Osteoporosis are decrease of calcium and bone fractures. These symptoms or effects can all be caused by weight loss, smoking, age, ethnicity, genetics, medications, bone structure, and certain diseases that can later on contribute to Osteoporosis, such as rheumatoid arthritis. Osteoporosis may be prevented by going to drug therapy to stop alcoholism and smoking, a sufficient amount of calcium intake, and exercising; such as jogging, walking,
Hoffmeister, Ellen. "Gene Therapy and Pharmaceuticals Offer Hope for Many Patients With Brittle Bones." Bone and Joint 11.5 (2005): 49-51. eBook.
The syndrome is caused because of Genetic mutation that replaces connective tissues (muscles) with bones when someone gets injured instead of getting cured. This results in a new skeletal structure. Unfortunately this syndrome does not have any cure and the patients are advised to always be careful and not to fall or have any kind of traumas. They can’t engage in any sports in order to prevent any injuries. Surgery for removal of extra bones is not an option because removal of bones will lead to ingrowth of more bones. From previous cases it is seen that most of the patients suffering from this condition do not live more than 40 years and they die of respiratory
The skeleton helps to support, move and protect the human body and its health is necessary for normal functioning. Because of the skeleton’s importance, diseases of the skeletal system can be debilitating. For example, a group of genetic disorders called osteogenesis imperfecta affects about 50 000 people in the United States alone Ref. The body of a person with osteogenesis imperfecta (OI), or ‘brittle bone disease’ cannot properly form bones due to a mutation preventing them from producing a healthy amount of collagen, causing bones to fracture easily. This paper provides an overview of osteogenesis imperfecta’s symptoms, genetic causes, diagnosis, and its development. treatment and effect on a patient’s life.
...a casein-free diet was 19.9ng⁄mL, for participants not on a casein-free diet it was 19.6ng⁄mL, and for controls it was 17ng⁄mL. There were no differences in the measurements of 25 (OH) D in all groups. About sixty-one percent, fifty-four children, had concentrations of less than 20ng⁄mL. This is the minimum concentration recommended by the American Academy of Pediatrics to ensure good bone health. These children could be at risk for problems associated with vitamin D deficiency. This includes concerns with bone health and calcium and phosphorus metabolism. Children with autism spectrum disorder are limited to what activities they can do and usually are not exposed to much sunlight causing them to be at a greater risk. Understanding the needs and taking preventive measures for children with autism will help reduce the risk of health problems as they enter adulthood.
The big picture. Where the two schools of medicine differ is in philosophy. Doctors of osteopathy "treat people, not just symptoms," says Karen Nichols, dean of the Chicago College of Osteopathic Medicine. "The course list looks exactly the same, but the M.D.'s focus is on discrete organs. The osteopathic focus is that all of those pieces are interrelated. You can't affect one with out affecting another." That means paying more than simple lip service to the idea of the "whole" patient: It means that diagnosis and treatment rely on an examination of a person's environment and family and general situation as well as his or her body. Not surprisingly, about 65 percent of the nation's 52,000 licensed osteopaths (by comparison, the country boasts at least 900,000 M.D.'s) are primary-care physicians. The American Association of Colleges of Osteopathic Medicine has a description of osteopathic training, as well as short profiles of 20 schools, at www.aacom.org. The D.O. programs and their contact information are listed in the directory section of this book.
Other metabolic bone diseases are osteoporosis, gout, OSTEOARTHRITIS, and PAGET'S DISEASE. Nutritional Disorders Nutritional deficiencies that result in bone damage include RICKETS in children and osteomalacia in adults, caused by a lack of vitamin D. In children, calcium and phosphate are poorly distributed on bones during development, resulting especially in deformity of the legs and arms. In adults, bones of the spine, pelvis, and legs become demineralized and the bones weaken.
Arizona Science Center. (2011, February 1). Busy Bones. ASU - Ask A Biologist. Retrieved November 10, 2017 from http://askabiologist.asu.edu/bone-healing
Since the gene for HD is dominant, there is a 50% chance of a sufferer's
Norvell, J. G. (2013, June 11). Tibia and Fibula Fracture Clinical Presentation. Retrieved from http://emedicine.medscape.com/article/826304-clinical
Osteoporosis is a disease in which the bones become so weak and brittle that even a cough can cause enough stress on the bone that it will cause the bone to facture. The most commonly broken bones are the hip, wrist, and the spine. Although it affects men and women of all races, post-menopausal Caucasian and Asian women are more commonly affected than those of other ethnicities and sexes. In fact, thirty percent of all post-menopausal women in the US and Europe will be diagnosed with Osteoporosis and at least 40 percent of those will suffer from a fracture in their lifetime.