Children with NF1 are prone to the development of autism and brain tumors, which could reflect the effect of NF1 mutation on microglia function. Microglia are specialized macrophages that constantly survey the brain in health and in the setting of nervous system disease. As such, microglia have been implicated in the development of autism and brain cancer.
To understand how NF1 mutation, as seen in people with NF1, affect the function of brain microglia, a team of researchers at the Max Delbrück Center in Berlin led by Professor Helmut Kettenmann joined forces with scientists in the laboratory of NF Center Director, Dr. David Gutmann. For these studies, they used control and NF1-mutant human induced pluripotent stem cells that could be reprogrammed to generate human microglia.
Dr. Leo Kuhrt, then a medical student at the Charité Hospital in Berlin, spearheaded these collaborative studies, which revealed defects in human microglia function. Their findings established the foundation for interrogating how NF1 mutation alters microglia biology relevant to learning, attention, and social perception delays, as well as brain tumors, in children with NF1. This manuscript was published in Disease Models and Mechanics. You can read the full article here.