Rett Syndrome Gene Dysfunction Redefined
[Source: Science Daily]
Whitehead Institute researchers have redefined the function of a gene whose mutation causes Rett syndrome, a neurodevelopmental autism spectrum disorder. This new research offers an improved understanding of the defects found in the neurons of Rett syndrome patients and could lead to novel therapies for the disease.
“The action of the MECP2 protein is just the opposite of how it was held for the past 15 years,” says Whitehead Founding Member Rudolf Jaenisch, who is also a professor of biology at MIT. “It was thought that this protein globally repressed the expression of methylated DNA. What this work shows is when you do the analysis in a way that takes cell size into account — cell size is very different in Rett neurons compared to wild type — then suddenly we can see that the protein acts like a global activator. We’ve defined the function of MECP2 in a totally different way.”
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