A Cure for Fragile X Syndrome? An Animal Study

Activation of a metabotropic glutamate receptor altered phenotypic features of fragile X syndrome.

Fragile X syndrome, caused by silencing of the fragile X mental retardation 1 gene (FMR1), is the most common heritable cause of mental retardation and is associated with autism, seizures, and other features. FMR protein (FMRP) is believed to accelerate mRNA and protein synthesis. Some researchers have suggested that silencing of FMR1 decreases FMRP levels, thus preventing the expected inhibition of metabotropic glutamate receptor 5 (mGlu5).

To test this hypothesis, researchers examined four groups of mice — wild-type mice and three kinds of engineered mice: those with Fmr1 knocked out, those with knockout of one gene for mGlu5 (producing 50% reduction of mGlu5; mice with no genes for mGlu5 have brain abnormalities), and those with both muta…

Reviewing Author

Barbara Geller, MD

Disclosures

Nothing to disclose

Barbara Geller, MD

Disclosures

Nothing to disclose