Fragile X Protein Tied to Snags in Stem Cell Development

The protein missing in fragile X syndrome is necessary for the proper development of neural stem cells — self-renewing cells that can differentiate into more specialized types, including neurons — according to a paper published in the August issue of Human Molecular Genetics¹.The bulk of research on fragile X mental retardation protein (FMRP) has focused on its role at the synapse — the junction between neurons — and how disruptions to cell signaling might cause learning problems and autism-like behaviors. These efforts have led to promising clinical trials of drugs that act at the synapse.The new work suggests that fragile X syndrome arises from glitches in early brain development that occur before synapses are formed, eventually leading to the signaling problems or to other defects."We are just at the beginning of this work, but I think it gives us a new handle on this disease, and perhaps on thinking of new therapeutic approaches at an earlier time in development," says Daniela Zarnescu, assistant professor of molecular and cellular biology at the University of Arizona.Read more at...SFARI, September 2010.