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NF Genetics

Page history last edited by Sarah Lorenz 14 years, 3 months ago

How Neurofibromatosis Occurs

 

Both types of Neurofibromatosis are autosomal dominant disorders.[1] This means that only one copy of the mutated gene (for either type) is needed for the offspring to be affected by this disorder. If one parent is affected while the other is not, then their child will have a 50 percent chance of inheriting this NF. Neurofibromatosis can be a result of a sponateous mutation in the genetic material of the sperm or egg at conception where there has been no previous history of neurofibromatosis. About half of the cases are inherited and the other half are due to mutation.[2]

  

What genes are related to neurofibromatosis type 1?

 

The NF1 gene is responsible for making a protein called neurofibromin. It is mainly produced in nerve cells, including specialized cells surrounding nerves(Schwann cells). [3] Neurofibromin acts as a tumor suppressor. This means it prevents cells from dividing too rapidly.  When this gene is damaged, it is unable to control cell growth and creates tumors. It is still unclear how this leads to cafe-au-lait spots and learning disabilities.

 

Chromosome 17

 

 

 

 

What genes are related to neurofibromatosis type 2?

 

The NF2 gene, is in charge of making a protein called merlin (schwannomin). It is produced in the nervous system, mainly Schwann cells, which surround and insulate nerve cells in the brain and spinal cord.[4] Merlin works like Neurofibromin, in that it acts as a tumor suppressor. The exact function of merlin is unknown, but it is most likely involved in controlling cell movement, cell shape, and communication between cells.[5] Mutations in the NF2 gene can lead to nonfunctional versions of the merlin protein that can not control cell growth/division. Research suggests that loss of merlin allows cells to multiply too frequently and therefore form tumors.[6]

 

Chromosome 22

 

 

 

 

 

 

 

 

 

Footnotes

  1. "Neurofibromatosis Inc.." What is NF?. 2009. Board of Directors, Web. 28 Oct 2009. .
  2. "Neurofibromatosis Inc.." What is NF?. 2009. Board of Directors, Web. 28 Oct 2009. .
  3. "Genetics." Neurofibromatosis Type 1. 10/23/09. NLM, Web. 28 Oct 2009. .
  4. "Genetics." Neurofibromatosis Type 2. 10/23/09. NLM, Web. 28 Oct 2009. .
  5. "Genetics." Neurofibromatosis Type 2. 10/23/09. NLM, Web. 28 Oct 2009. .
  6. "Genetics." Neurofibromatosis Type 2. 10/23/09. NLM, Web. 28 Oct 2009. .

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