Saturday, December 8, 2012

Neurofibromatosis Type 1


What is it?
Neurofibromatosis Type 1 is a disease involving abnormal growths or tumors on nerve cells that usually form just underneath the skin.  Symptoms may vary widely from high blood pressure to learning disabilities  to bone defects.  A less common form is Neurofibromatosis type 2 but has similar symptoms.

How do you get it?
The trait is an autosomal dominant trait passed down from parents on chromosome 17.  Children born to an affected parent have a 50% chance of getting the disease.  If both parents carry the trait, all their children will carry the trait.  Mutations can arise however during embryonic development without having any affected parents.

What causes it?
Mutations in genes on Chromosome 17 lead to improper coding for the protein neurobromin.  This protein regulates the activity of a protein called ras, which is important in cell division.  The inability of neurobromin to bind properly to ras leads to overactive cell division.  In time this can lead to cancer.
Prognosis?
Symptoms can be mild enabling people to live normal productive lives.  However, more extreme cases can lead to large physical deformities or even psychological ailments.  Neurological problems in the brain stem and cranial nerves can be life threatening.

Treatment?
Although there is no cure for Neurofibromatosis, the most common, and most effective, treatment is surgical removal of the tumor.  If the tumors become cancerous then chemotherapy or radiation therapy may be used.

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