Neuroofibromatosis Research Paper

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Neurofibromatosis
Neurofibromatosis (NF) is a genetic disorder, which can affect anyone, that is either inherited by the parents or resulting from a chromosomal abnormality during the reproduction process. According to the Children’s Tumor Foundation in their document ‘Frequently Asked Questions About NF’, there are three different types of NF:
1. Neurofibromatosis Type 1 (affects 1 in 3,000 people)
2. Neurofibromatosis Type 2 (affects 1 in 25,000 people)
3. Schwannomatosis (affects 1 in 40,000 or less people)
Neurofibromatosis Type 1 The “symptoms of NF1 vary for each individual”; being this, the various of symptoms can be light brown spots, small bumps (neurofibromas) on nerve tissue or under the skin, “freckles under the armpits or in the …show more content…

The symptoms of NF2 includes continuous ringing in the ears or hearing loss, “tumors along the eighth cranial nerve” (the nerve responsible for hearing), “cataracts at a young age”, tumors located in the brain and/or along the spinal cord (causing numbness), balancing problems, or the muscles literally waste away (National Human Genome Research Institute, 2016). When a mutation occurs in the gene NF2, Neurofibromatosis Type 2 takes place. The gene NF2 is the location of a code named merlin, or schwannomin, that’s function is currently unknown but thought to be “involved in controlling cell movement, cell shape, and communication between cells” as well as “insulate nerve cells” (Genetics Home Reference, 2012).
Schwannomatosis
A severe case of NF, in humans over the age of 30, is schwannomatosis, which is when tumors (schwannomas) form on the “nerves throughout the body” (Johns Hopkins University; Johns Hopkins Hospital; Johns Hopkins Health System). This causes severe pain for the sufferer especially depending on the size and location of the tumor(s). Though not completely known because of how recent schwannomatosis’s discovery is, it is though that the loss of the gene INI1, or SMARCB2, to be the culprit of this genetic disorder (Johns Hopkins University; Johns Hopkins Hospital; Johns Hopkins Health System).
Chromosomal

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