Defining why people with NF1 have learning and memory deficits can be challenging in mice. For one, the human brain is far more complex than the mouse brain. In addition, it is not known whether brain nerve cells (neurons) from people with NF1 have the same abnormalities that have been reported in neurons from Nf1 mouse models.
However, a new technology has changed all of that. Scientists were awarded the Nobel Prize several years ago for pioneering work in which skin cells could be reprogrammed into stem cells capable of generating nearly every type of cell in the body.
Leveraging this method, Corina Anastasaki, PhD, a post-doctoral fellow in Dr. David Gutmann’s laboratory, recently converted skin cells from people with NF1 into neurons to determine what underlies some forms of learning and memory problems in children with NF1. Dr. Anastasaki found that these neurons had different levels of a neurotransmitter, called dopamine, which directly correlated with memory deficits observed in mice.
Her studies are the first to use reprogrammed neurons that model those found in the brains of people with NF1.
Anastasaki C, Woo AS, Messiaen LM, Gutmann DH. Elucidating the impact of neurofibromatosis-1 germline mutations on neurofibromin function and dopamine-based learning. Hum Mol Genet. 2015; doi: 10.1093/hmg/ddv103.