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You are currently on the homepage of the topic Neurofibromatosis Type 2. On our further pages you will find information on the following topics:
- Symptoms of neurofibromatosis type 2
- Neurofibromatosis type 1
- Symptoms of neurofibromatosis type 1
- Life expectancy and therapy for neurofibromatosis type 1
Classification of neurofibromatoses
- Neurofibromatosis type 1and
- Neurofibromatosis type 2
Synonyms
NF2
Definition
Like NF 1, neurofibromatosis type 2 is a hereditary disease of autosomal dominant inheritance. This means that if an NF gene is present (there is always one gene each from mother and father) the disease develops. The genetic mutation is on chromosome 22q12. 2. it is a tumor disease. The tumors are found in the nervous system, i.e. mainly along the brain and spinal nerves (spinal cord nerves).
EpidemiologyPopulation incidence
Type 2 neurofibromatosis occurs significantly less frequently than NF1, with an incidence of 1:25,000 to 35,000. Men and women are equally affected in this disease. Half of the cases are new mutations, i.e. not inherited cases.
The gene locus of the NF2 gene is located on chromosome 22q12. 2. The gene encodes the protein Merlin.
Merlin is also called neurofibromin 2 or Schwannomin. The task of this protein is to anchor the supporting skeleton of the cells, in this case the actin cytoskeleton, in the cell membrane, especially that of the nerve cells. Another task is to inhibit the transmission and amplification of extracellular signals (signals outside the cell), which are transmitted by growth factors.
A mutation causes signals that stimulate the cell to divide not to be inhibited, resulting in increased cell division. Since NF2 belongs to the tumor suppressor genes (tumor protection genes), a mutation of this gene promotes tumor development. Finally, Merlin is involved in the regulation of cell adhesion, i.e. the connection between cells. More information on neurocutaneous syndromes can be found here: Neurocutaneous syndrome
