Posted at October 28, 2013 | By: | Categories: News Reports and Commentaries | 4 Comments

UMass Medical School: Genetic Mutation Found to Restore Translational Balance in Mice with FXS Mutation

Joel Richter, PhD, professor of molecular medicine(Photo Courtesy of UMassMedNow)

Joel Richter, PhD, professor of molecular medicine
(Photo Courtesy of UMassMedNow)

Scientists at UMass Medical School have shown that knocking out a gene important for messenger RNA (mRNA) translation in neurons restores memory deficits and reduces behavioral symptoms in a mouse model of a prevalent human neurological disease. This provides researchers with a new approach to study and potentially treat fragile X syndrome (FXS). The results were published in Nature Medicine on Oct 20, and they suggest the main cause of FXS may be a translational imbalance that results in elevated protein production in the brain. Restoration of this balance may be necessary for normal neurological function.

“Biology works in strange ways,” said Joel Richter, PhD, professor of molecular medicine and senior author on the study. “We corrected one genetic mutation with another, which in effect showed that two wrongs make a right. Mutations in each gene result in impaired brain function, but in our studies, we found that mutations in both genes result in normal brain function. This sounds counter-intuitive, but in this case that seems to be what has happened.”

For more information, please visit UMassMedNow’s website.