Neurofibromatosis 1 Structure and function of the NF1 gene product, neurofibromin. Neurofibromatosis 1 is the most common inherited condition affecting the nervous system.
Affected individuals harbor an increased risk of developing benign and malignant tumors.
One of these tumors involves the nerve that carries vision to the brain and increased growth can lead to blindness or neurological compromise. Efforts in our laboratory are directed at determining how the NF1 gene and its protein product, neurofibromin, function to regulate astrocyte cell growth and why defects in neurofibromin expression result in the development of optic pathway gliomas. Previous work from our laboratory and others have demonstrated that neurofibromin functions in part as a negative regulator of p21-ras. Since ras activation can lead to cell proliferation and malignant transformation, it is likely that loss of neurofibromin in NF1-associated tumors leads to increased ras activity and tumor development.