Neurofibromatosis

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"Neurocutaneous Syndromes." STUDYBLUE. 18 Jan. 2012. Web. 2 Dec. 2015.

A little about Neurofibromatosis

The gene that this disease is located is called NF1 and is in the 17th chromosome. The gene that this disease is located on (NF1) is what provides instructions for making protein called neurofibromin. Neurofibromin acts as a tumor suppressor protein. Tumor suppressors normally prevent cells from growing and dividing too rapidly or in an uncontrolled way. This protein appears to prevent cell overgrowth by turning off another protein (called ras) that stimulates cell growth and division. Other potential functions for neurofibromin are under investigation.
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Many NF1 mutations result in the production of an extremely short version of neurofibromin. This shortened protein cannot perform its normal job of inhibiting cell division. When mutations occur in both copies of the NF1 gene in Schwann cells, the resulting loss of neurofibromin allows noncancerous tumors called neurofibromas to form. Neurofibromas is what helps heal wounds and tissue.

Some information about Neurofibromatosis

Symptoms

  • six or more light brown spots on the skin (often called “café-au-lait” spots), measuring more than 5 millimeters in diameter in children or more than 15 millimeters across in adolescents and adults;
  • two or more neurofibromas, or one plexiform neurofibroma (a neurofibroma that involves many nerves);
  • freckling in the area of the armpit or the groin;
  • two or more growths on the iris of the eye (known as Lisch nodules or iris hamartomas);
  • a tumor on the optic nerve (called an optic nerve glioma)
  • abnormal development of the spine (scoliosis), the temple (sphenoid) bone of the skull, or the tibia (one of the long bones of the shin);
  • a parent, sibling, or child with NF1.

Inheritance

Although many people who have neurofibromatosis inherited it from one of their parents, between 30 and 50 percent developed it sponta-neously from a mutation (change) in their genes before birth.

Neurofibromatosis is inherited as an autosomal (non-sex-linked) dominant disorder. This means that each child born to a parent with neurofibromatosis has a 50 percent chance of inheriting the defective gene and developing the disease. Since this disease is dominate there are no carriers for this disease .

Complications

As complications may vary with with anyone who has neurofibromatosis, but generally complications result from tumor growth distorting nerve tissue or pressing on internal organs and sometimes lose of vision, and face distortions.

Treatment

Scientist don't know how to prevent neurofibromas for growing. Surgery is normally recommended to remove cancerous tumors. Also some doctors will use surgery, radiation, or chemotherapy to reduce the size of the optic nerve gliomas when vision is threatened.

Current Research

Right now scientist are aimed at learning how the mutation for the start of the NF1 tumors occur.

Interesting facts about neurofibromatosis

  • There are many types of disease cause from NF
  • NF1 is the most common neurological disorder caused by a single gene; occurring in one in every 3,000 children born.

Reference's

"NF1 Gene." Genetics Home Reference. 2007. Web. 2 Dec. 2015.

"Neurofibromatosis Fact Sheet." Neurofibromatosis Fact Sheet. 27 July 2015. Web. 4 Dec. 2015.

"Neurofibromatosis." Complications. Web. 4 Dec. 2015.

"Neurofibromatosis." - Body, Causes, What Is ?, What Causes ? Web. 7 Dec. 2015.

Picture Reference

"OpenStax CNX." OpenStax CNX. Web. 7 Dec. 2015

"Neurofibromatosis." - Body, Causes, What Is ?, What Causes ? Web. 7 Dec. 2015.

"NF1 Gene." Genetics Home Reference. Web. 7 Dec. 2015.

"Who Am I?" What Is Neurofibromatosis? Web. 7 Dec. 2015.

"Neurofibromatosis." MayoClinic.com Health Library -. Web. 7 Dec. 2015.