Neurofibromatosis

There are two types of Neurofibromatosis, NF1 and NF2. NF1 is caused by a mutation in the NF1 gene on chromosome 17. The NF1 gene is responsible for the production of the protein neurofibromin. By changing the coding for its mRNA NF1 can produce three slightly different versions of neurofibromin. These versions of neurofibromin are expressed at specific times during the development of the forebrain, muscles, and other tissues. Neurofibromin acts to switch off the RAS protein that is responsible for activating cell growth. When the neurofibromin protein is not functioning correctly, as happens in people with NF1, the RAS protein is not regulated, allowing the cell to grow uncontrolled, leading to harmful tumors. NF2 is caused by a mutation in the NF2 gene on chromosome 22. The NF2 gene produces the merlin protein which helps regulate cell growth in the schwann cells which wrap around the axons of nerve cells. Merlin proteins are, in effect, tumor suppressor protein and their abscence usually leads to unregulated cell growth around nerve cells, resulting in tumors. The Merlin protein is also important to maintaining the organization of the cytoskeleton. When the Merlin protein is mutated or missing, the cytoskeleton organization is confused, leading to unchecked cell growth. This in turn can lead to tumors, and, in some cases, metastasis. (http://www.ygyh.org/nf/whatisit.htm)
 * What is Neurofibromatosis?**

More than half of the people with the disease inherit it from their parents. The rest of the cases are due to spontaneous and random mutation. __NF1__ __NF2__ (http://orthoinfo.aaos.org/topic.cfm?topic=A00050)
 * How can you get it?**
 * What are the symptoms? Is it life-threatening?**
 * Dizziness
 * Mild intellectual impairment/attention deficit disorder
 * "Cafe-au-lait" spots on the skin
 * Freckles on the underarm or groin
 * Multiple neurofibromas (tumors that usually appear on the skin and are small, painless, and slow growing)
 * Lisch nodules - small brown tumors that appear in the iris of the eye (not known to cause medical problems)
 * Hearing loss
 * Ringing in the ears
 * Headaches
 * Trouble with balance
 * Facial pain/numbness

While both diseases can become life-threatening only 3-5% (http://www.ninds.nih.gov/disorders/neurofibromatosis/neurofibromatosis.htm) of all cases deal with malignant tumors. NF1 symptoms tend to be mild and patients can lead a normal life-style. NF2 can damage nearby vital structures, becoming dangerous to the body.

There is currently no cure for neurofibromatosis. Treatments generally focus on relieving the patients symptoms and can include surgery to remove tumors, or, in life-threatening cases, chemotherapy or radiation. Because of the complex nature of the NF1 and NF2 genes scientists do not yet have a specialized treatment for neurofibromatosis though research is ongoing. (http://www.ninds.nih.gov/disorders/neurofibromatosis/neurofibromatosis.htm)
 * Treatment**