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what research is currently being done on neurofibromatosis? if there is some, who is doing it and what are they doing?


Posted by ESHAxo

 
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Hi ESHAxo,

Several years ago, research teams at the National Institutes of Health (NIH) National Institute of Neurological Disorders and Stroke (NINDS) located the exact position of the NF1 gene on chromosome 17. The product of the NF1 gene is a large and complex protein called neurofibromin. One portion of this protein is similar to a family of proteins called GAP (guanosine triphosphatase-activating protein). Scientists have demonstrated that GAP proteins play a significant role in tumor suppression in certain cancers. The similarity of the NF1 protein to GAP proteins suggests that the NF1 protein may have a similar switching role in the development of neurofibromas.

Scientists theorize that defects in the gene may lessen or inhibit the normal output of its protein and allow the irregular cell growth that may lead to tumor development.

Intensive efforts have led to the identification of the NF2 gene on chromosome 22. The NF2 gene product is a tumor suppressor protein. Basic studies in molecular genetics may lead one day to nonsurgical or pharmacologic treatments aimed at retarding or suppressing tumors associated with the neurofibromatoses.

The Interinstitute Medical Genetics Research Program at the NIH Clinical Center conducts NF2 family history research. Using specimens from some of the families, scientists have isolated and sequenced the NF2 gene and have described two different patterns of clinical features in NF2 patients. Investigators are continuing to study these patterns to see if they correspond to specific types of gene mutations.

 

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