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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