Autism Vox

Stem Cell Mutation and Rett Syndrome

by Kristina Chew, PhD on July 2nd, 2008

Rett Syndrome has been linked to mutations in the MeCP2 gene; Rett Syndrome causes impairments in language and cognitive and fine motor skills and seizures; it is, according to the International Rett Syndrome Foundation, often misdiagnosed as autism.  A recent study published in the June 30 in the Proceedings of the National Academy of Sciences  shows that an early stem cell mutation may be linked to Rett Syndrome. Stem cells can develop into many different types of cells in the body and can “theoretically divide without limit to replenish other cells as long as the person or animal is still alive.”

From Science Daily; the research 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 the Burnham Institute of Medical Research:

Discovered in Dr. Lipton’s laboratory, 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. 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.

“There’s a yin and yang to this MEF2C protein,” said Dr. Lipton. “My laboratory recently showed that MEF2C induces embryonic stem cells to become neurons. In this new research, we show that knocking out MEFC2 in the brain results in mice with smaller brains, fewer neurons and reduced neuronal activity. The commonality is the protein’s association in making new neurons.”

This study is the first on neural stem cells and the development of autism or, more specifically, Rett Syndrome. Dr. Lipton notes that

“‘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’”

Other studies have looked at specific genetic mutations and there has been speculation in media reports about a cure for Rett Syndrome as a result of these genetic findings.

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POSTED IN: Genetics, Neuroscience, Science