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...
... middle of paper ...
...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.
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.
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