Analysis and Description of Neurofibromatosis Type One Essay

Analysis and Description of Neurofibromatosis Type One Essay

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Neurofibromatosis Type one (NF1) is the most common genetic disease in the world, and it affects one in every 3,000 to 4,000 births worldwide (Children’s Tumor Foundation, 2014). Neurofibromatosis comes in three different types: Schwannomatosis is the most severe, then Neurofibromatosis Type two (NF2), and finally the least severe, Neurofibromatosis Type one. Depending on the severity of NF1 a person could live a perfectly normal life; however, life-debilitating complications are still possible and treatments can be time consuming.
NF1 is also known as Recklinghausen Neurofibromatosis or Peripheral Nerve Neurofibromatosis (Children’s Tumor Foundation, 2014). The nervous system consists in two parts: the central nervous system(CNS) and peripheral nervous system(PNS). The CNS consists of the brain and spinal cord, while the PNS consists of all the cranial and spinal nerves in the body (Shire, Butler, Lewis, 2013, pg.361). A person who has NF lacks a protein that prevents tumors from growing anywhere in the nervous system.
What causes this lack of protein? NF1 falls on the seventeenth chromosome and its exact location on the chromosome is 17q11.2 or between the 31,045,487 to 31,377,676 gene (National Library of Medicine, n.d). The NF1 gene is supposed code for a protein called neurofibromin. Neurofibromin is a specialized protein that produces oligodentritcyte (National Library of Medicine, n.d.). Oligiodentritcyte forms the myelin sheath, which is also known as the Schwann cell, which is found on the axon of a neuron in the PNS (Shire, Butler, Lewis, 2013, pg.361). Neurofibromin acts like a tumor suppressor protein, so a person with NF1 is more prone to getting tumors, so without neurofibromin the mitosis cycle conti...

... middle of paper ...

...ere are three types of Neurofibromatosis, which are Schwannomatosis, which is the most severe, NF2, and finally the NF1, which is the most common. NF1 occurs one in every 3,000-4,000 births worldwide. Unfortunately, there still is no cure even though NF1 is the most common genetic disease in the world. Each person with NF1 has a unique case that can vary in the severity of their complications, one person my not be affected by it that much, while another is greatly impacted by it, and potential could need a lot of time consuming treatments.

Children’s Tumor Foundation (2014).
National Library of Medicine. (n.d.). Retrieved from
Shier. D, Butler. J, & Lewis. R. (2013). Holt’s Human Anatomy & Physiology. Thirteenth edition.

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