Tuesday 1 July 2008

Early Stem Cell Mutation Linked to Autism

Early Stem Cell Mutation Linked to Autism Tuesday, 01 July 2008 In a breakthrough scientific study published today in the Proceedings of the National Academy of Sciences, scientists at the Burnham Institute for Medical Research 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 behaviours’ similar to those seen in humans with a form of autism known as Rett Syndrome. This work 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. "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." 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 behaviours, decreased cognitive function and marked paw clasping, a behaviour 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 MEF2C 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." Rett syndrome, a form of autism, afflicts more girls than boys and results in poor brain development, repetitive hand motions, altered anxiety behaviours and the inability to speak. Patients with Rett Syndrome also suffer from seizures and other debilitating neurological symptoms. About Burnham Institute for Medical Research Burnham Institute for Medical Research is dedicated to revealing the fundamental molecular causes of disease and devising the innovative therapies of tomorrow. Burnham is one of the fastest growing research institutes in the country with operations in California and Florida. The Institute ranks among the top four institutions nationally for NIH grant funding and among the top 25 organizations worldwide for its research impact. Burnham utilizes a unique, collaborative approach to medical research and has established major research programs in cancer, neuro-degeneration, diabetes, infectious and inflammatory and childhood diseases. The Institute is known for its world-class capabilities in stem cell research and drug discovery technologies. Burnham is a non-profit, public benefit corporation. See also: Genetically Modified ESCs Improved Brain Function CellNEWS - Wednesday, 25 June 2008 ......... ZenMaster


For more on stem cells and cloning, go to CellNEWS at http://cellnews-blog.blogspot.com/ and http://www.geocities.com/giantfideli/index.html

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