Down syndrome DSCR1 causes spine pathology via the Fragile X-related protein FMRP

Abstract

A new study by Wang et al (2012) published in The EMBO Journal reports that the Down Syndrome Critical Region 1 (DSCR1) protein interacts with the Fragile X-related protein (FMRP) to regulate spine morphology and local protein synthesis. These findings highlight a convergence of Down syndrome (DS) and Fragile X pathogenic pathways, and provide insights on potential therapeutic approaches.