Correction of Retardation and Autism in Mice Points to Human Treatment
- Thursday, 31 January 2008
Fragile X syndrome (FXS), affecting 100,000 Americans, is the most common inherited cause of mental retardation and autism. The MIT researchers corrected FXS in mice modeling the disease. The findings support the theory that many of FXS’s psychiatric and neurological symptoms such as learning disabilities, autistic behavior, and childhood epilepsy, stem from too much activation of one of the brain’s chief network managers, the metabotropic glutamate receptor mGluR5. By reducing mGluR5, the excesses can be reduced.
Individuals with FXS have mutations in the X chromosome’s FMR1 gene, which encodes the fragile X mental retardation protein, FMRP. The MIT study found that FMRP and mGluR5 keep each other in check and, without FMRP, mGluR5 signals run rampant.
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