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Transcript of Neurofibromatosis
Neurofibromatosis Type 1.Learn.Genetics. Retrieved December 18, 2012, from http://learn.genetics.utah.edu/content/disorders/whataregd/nf1/
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Relief from Selective Nerve Root Steroid Injections. Pain Medicine [serial online]. January 2011;12(1):45. Available from: Advanced Placement Source, Ipswich, MA. Accessed December 19, 2012. The Big Picture In a healthy cell neurofibromin will, when needed, inactivate the ras protein causing the cell to stop growing and dividing (Genetics home reference, 2007). In the cell of an individual affected by neurofibromatosis type 1, a mutation to the NF1 gene causes a shortened version of the neurofibromin protein to be synthesized, this shortened version cannot perform its function of inactivating the ras protein, and the cell will divide uncontrollably (Genetics home reference, 2007). This uncontrolled division results in the formation of neurofibromas, benign tumors associated with Neurofibromatosis type 1(Genetics home reference, 2007). As cell divide uncontrollably they begin to form neurofibromas, benign tumors, found throughout the body. Neurofibromatosis type 1 is characterized by the formation of neurofibromas along nerves in the brain, specifically the optic nerve, near the spinal cord, and on nerves on or just below the surface of the skin (Bethesda, 2012). A patient can have any number of neurofibromas throughout their body, from three or four to thousands (Learn genetics, 2012). Additional symptoms of neurofibromatosis type 1include high blood pressure, short height, an abnormally large head, and skeletal irregularities such as scoliosis. Those with neurofibromatosis type 1 also have a high incidence of learning disabilities such as ADHD (Genetics home reference, 2007). Symptoms vary greatly from patient to patient for reasons unknown to scientists and medical professionals, there is however speculation that an individual’s unique genetic make-up will influence the severity of their symptoms (Learn genetics, 2012). In rare cases the benign neurofibromas may become cancerous; this means that those with neurofibromatosis type one have an increased risk of cancer, specifically brain tumors and leukemia (Genetics home reference, 2007). There is no treatment for neurofibromatosis, there are surgical options to remove tumors and correct bone damage, there is however no cure for the disorder itself (Learn genetics, 2012). Since the discovery of the location and function of the NF1 gene research surrounding neurofibromatosis has really changed (Bethesda, 2012). The discovery of this gene has promoted researchers to search for other genes which may influence the growth or suppression of neurofibromatosis-related tumors (Bethesda, 2012). There is also research being conducted to determine why the mutations of the NF1 gene that cause neurofibromatosis type 1 also cause the abnormal development and formation of nerve cells and nerve networks in fetuses, which later cause learning disabilities (Bethesda, 2012). References Neurofibromatosis is also characterized by café-au-lait spots, flat patches of darkly pigmented skin, and Lisch nodules, benign growths in the iris of the eye (Genetics home reference, 2007). What's Next?