Patrick K McCamphill, Laura J Stoppel, Rebecca K Senter, Michael C Lewis, Arnold J Heynen, David C Stoppel, Vinay Sridhar, Katie A Collins, Xi Shi, Jen Q Pan, Jon Madison, Jeffrey R Cottrell, Kimberly M Huber, Edward M Scolnick, Edward B Holson, Florence F Wagner, Mark F Bear
Fragile X syndrome is caused by FMR1 gene silencing and loss of the encoded fragile X mental retardation protein (FMRP), which binds to mRNA and regulates translation. Studies in the Fmr1-/y mouse model of fragile X syndrome indicate that aberrant cerebral protein synthesis downstream of metabotropic glutamate receptor 5 (mGluR5) signaling contributes to disease pathogenesis, but clinical trials using mGluR5 inhibitors were not successful. Animal studies suggested that treatment with lithium might be an alternative approach...
May 20, 2020: Science Translational Medicine