What is Neurofibromatosis
Neurofibromatosis is an autosomal dominant genetic disorder. Neurofibromatosis type I (NF-1), also known as von Recklinghausen syndrome, comprises, along with neurofibromatosis typ...
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Neurofibromin
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Ok Neurofibromin is a protein that SUPRESSES TUMOR GROWTH.http://www.mayoclinic.org/neurofibromatosis-nf1/
That is why we have the tumors associated with NF1 right. This occurs on chromosone 17. Since ours is mutated the neurofibromin can not carry out it's role. So my question is can they find what that neurofibromin protein is made of so they can make a carbon copy form of it? This would help the mutated gene right? Maybe new tumors will stop growing? I am learning more and more I am understanding a little more daily.. I have faith we will find a treatment that will work wonders for our condition one day. Posted on 06/23/09, 03:06 pm |
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I think thats one of the things researchers are working on.... making a synthetic form of that protein that is not toxic. drug research can take decades before a drug is considered being safe reliable and effective enough to be approved and marketed. if a drug is ever made available, chances are that it will be very expensive for the first 10-15 years it is made available. Don't be discouraged though. in the world of drug research, failures can be considered just as good as a success, and the success will finally happen some day.... 
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there is another genetic disorder that affects protein production (cant remember which right now) but scientists have developed a gene patch (in mice) that produces an imperfect but working replacement protein. I believe its going into human drug trials If its successful there is no reason it cant be translated for use in other genetic disorders like NF. Unfortunately like mafrank said it could take decades!
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