Autism protein epigenetically misregulated study finds, opening door for new treatments

Fragile X syndrome (FXS) is a genetic disorder resulting in mild to moderate intellectual disability and is a leading cause of autism. FXS is a direct result of the loss of function of the fragile X mental retardation protein (FMRP)—a transcriptional repressor. Moreover, FMRP acts as a genetic conductor, orchestrating a symphony of genes that help shape DNA's 3D structure. Many of the known target transcripts for FMRP are synaptic proteins, yet targeting these proteins has not yielded effective treatments. Now, investigators at The Rockefeller University have published data showing that FMRP oversees a set of genes that alter how DNA is packaged. Findings from the new study were published recently in Cell in an article entitled “Excess Translation of Epigenetic Regulators Contributes to Fragile X Syndrome and Is Alleviated by Brd4 Inhibition.”

This newly discovered role for FMRP is important and may ultimately reveal novel ways to counter fragile X. Senior study investigator Robert Darnell, M.D., Ph.D., a Howard Hughes Medical Institute (HHMI) investigator at The Rockefeller University, calls the findings "an exciting step toward a different kind of treatment approach," but cautions that the results, from studies of mice, are preclinical.

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29th September 2017
Genetic Engineering and Biotechnology News