CONTACT: Xinyu Zhao, (608) 263-9906; xinyu.zhao@wisc.edu (requests email for first contact)
MADISON – A University of Wisconsin-Madison researcher who studies the most common genetic intellectual disability has used an experimental drug to reverse – in mice – damage from the mutation that causes the syndrome.
The condition, called fragile X, has devastating effects on intellectual abilities.
Fragile X affects one boy in 4,000 and one girl in 7,000. It is caused by a mutation in a gene that fails to make the protein FMRP. In 2011, Xinyu Zhao, a professor of neuroscience, showed that deleting the gene that makes FMRP in a region of the brain that is essential to memory formation caused memory deficits in mice that mirror human fragile X.
The deletions specifically affected neural stem cells and the new neurons that they form in the hippocampus.
Tantalizingly, Zhao’s 2011 study showed that reactivating production of FMRP in new neurons could restore the formation of new memories in the mice. But what remained unclear was exactly how the absence of FMRP was blocking neuron formation, and whether there was any practical way to avert the resulting disability.
Now, in a study published on April 27 in Science Translational Medicine, Zhao and her colleagues at the Waisman Center at UW-Madison have detailed new steps in the complex chain reaction that starts with the loss of FMRP and ends up with mice that cannot remember what they had recently been sniffing.
Read more at http://news.wisc.edu/experimental-drug-cancels-effect-from-key-intellectual-disability-gene-in-mice/?utm_source=news-release&utm_medium=email&utm_campaign=news-release-short
