Over 60% of children with NF1 have learning, attention and behavioral delays, leading researchers to believe that the NF1 gene is a critical regulator of brain nerve cell function. Previous studies designed to determine how the NF1 gene functions in brain cells have yielded conflicting results in both mouse and fruit fly model systems.
A recent study published by Corina Anastasaki, PhD, a post-doctoral research fellow in the laboratory of Dr. David Gutmann at the Washington University NF Center, revealed how the NF1 protein (neurofibromin) controls an important signaling molecule called cyclic AMP (cAMP). In these studies, she showed that neurofibromin increases neuronal cAMP levels through the RAS protein. However, neurofibromin regulates cAMP abundance through a unique RAS signaling pathway, distinct from those important for neurofibromin/RAS tumor growth control. This new work appeared in the journal Human Molecular Genetics this summer.
Ultimately, this study brings researchers one step closer to developing treatments aimed at correcting brain nerve cell dysfunction in people with NF1.
Anastasaki C, Gutmann DH. Neuronal NF1/RAS regulation of cyclic AMP requires atypical PKC activation. Hum Mol Genet. ddu389, 2014.