Mice lacking MEF2C, which turns stem cells into nerve cells, developed symptoms similar to those seen in humans with this disease, according to PNAS paper.

A group of researchers have shown that neural stem cell development may be linked to autism. The study demonstrated 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 a form of autism known as Rett syndrome.

MEF2C turns on specific genes which drive stem cells to become nerve cells. When MEF2C was deleted from neural stem cells in mice, there was a faulty distribution of neurons accompanied by severe developmental problems, according to the scientists. Adult mice lacking MEF2C in their brains displayed abnormal anxiety-like behaviors, decreased cognitive function, and marked paw clasping, a behavior which may be analogous to hand wringing, a notable feature in humans with Rett syndrome, they add.

Investigators from Burnham Institute for Medical Research, The Scripps Research Institute, and Albany Medical Center were involved in this study. The paper appears in Proceedings of the National Academy of Sciences.

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