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Image of the Day: Fragile X

Researchers uncover the central role of a protein linked to Fragile X Syndrome in mice, one of the leading causes of autism and intellectual disability.

Nov 7, 2017
The Scientist Staff, The Scientist Staff

Compared to an unaffected mouse brain (top), a mouse model of Fragile X Syndrome (bottom) lacks the ability to regulate certain proteins such as Brd4 (depicted here in fluorescent green).ROCKEFELLER UNIVERSITYFragile X syndrome is a leading cause of autism and intellectual disability, and is characterized by a loss of function of a particular protein, fragile X mental retardation protein (FMRP). In mice, this results in changes in chromatin regulation and abnormal gene expression. Scientists have previously discovered that FMRP plays an important role in regulating the synthesis of various proteins that control the activity of genes expressed in the mouse brain. One of these proteins is Brd4, which in the absence of FMRP begins to tinker unhindered with the expression of other genes. 

In a new study, scientists found that inhibiting Brd4 with a drug could alleviate many of the changes linked to Fragile X Syndrome. The researchers believe that targeting proteins like Brd4 could lead the way to new treatments for the disorder. 

See E. Korb et al., “Excess translation of epigenetic regulators contributes to fragile X syndrome and is alleviated by Brd4 inhibition,” Cell, doi:10.1016/07.033, 2017.

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