ABSTRACT
The purpose of this study was to characterize a mutant mouse that bears an NF1 mutation that is identical to one found in humans. No human samples exist to determine the nature of how this particular mutation affects the NF1 gene and protein. This mutation is particularly important to understand as it does not lead to the neurofibroma formation found in most patients, but it can lead to learning challenges, developmental delay and in some cases epilepsy. This study was able to determine that this particular mutant NF1 protein neither affects the most common pathways associated with the function of the NF1 protein nor leads to some inflammatory aspects of the disease. These are critical findings as they reveal that the protein has additional functions that are linked to a very specific region of the protein and that this mutation may be acting in very distinct ways from the effects of complete loss of the NF1 protein. This study also found a link between this mutation and programmed cell death in a region of the brain critical for learning and memory. This information will allow new studies to more clearly define the molecular basis for the neurological aspects of Neurofibromatosis with this new understanding bringing the potential for new therapeutic targets.