Early Stem Cell Mutation Linked to Rett Syndrome

A communication release by the Burnham Institute for Medical Research claims that a study by Burnham scientists shows that neural stem cell development may be linked to Rett Syndrome. The study published today in the early online edition of the Proceedings of the National Academy of Sciences, reports that mice lacking the myocyte enhancer factor 2C (MEF2C) protein in neural stem cells had smaller brains, fewer nerve cells and showed behaviors similar to those seen in humans with Rett Syndrome. The communique claims that the study represents the first direct link between a developmental disorder of neural stem cells and the subsequent onset of autism.

The research team was led by Stuart A. Lipton, M.D., Ph.D., a clinical neurologist and Professor and Director of the Del E. Webb Neuroscience, Aging and Stem Cell Research Center at Burnham who expressed optimism that the results of the study could lead to correction of the mutation in mice and ultimately in humans:

"These results give us a good hint of how to look at Rett Syndrome and potentially other forms of autism in humans," said Dr. Lipton. "Having identified a mutation that causes this defect, we can track what happens. Perhaps we can correct it in a mouse, and if so, eventually correct it in humans."

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