Paget's Bone Disease Essay example

1389 Words 6 Pages
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
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The earliest record of Paget’s disease was found in the remains of an Anglo-Saxon from 950 AD and in the 15th century England. The clinical description of the disease is known as a “slowly evolving, often benign, deforming disease of the bone.” (Ooi & Fraser, 1997, pp.69-74) Even after a century of work and study of the disease we still cannot fully grasp it. We have although found better ways to diagnosis it and even have some treatments for the disease, but there are still many questions about the disease left unsolved. “Paget’s disease is a focal disorder of bone turnover characterized by excessive bone resorption coupled with bone formation which, while vigorous, often results in bone which is abnormal architecturally and is mechanically weaker.” (Ooi & Fraser, 1997, pp.69-74)
There are many ongoing studies currently about this horrible disease but the one this paper will be focusing on is a study of a particular gene mutation. The researchers in this study implanted the gene mutation into the eggs of the female mice and had them reproduce. They 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. (Hiruma et al., 2008, pp.3708-3719) The possible outcomes of this type of research will help them to understand how people contract this specific

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