Fragile X syndrome: From gene discovery to therapy

Abstract

A dynamic mutation in the fragile X mental retardation 1 gene, FMR1, was found to cause fragile X syndrome almost 20 years ago. Since, a wealth of information regarding the function of the gene has been gathered. It plays a role in RNA transport and stability and RNA-binding influences the function of a multituDe of other genes. In this review, we focus on the recent knowledge of molecular and biochemical pathways shown to be relevant in the fragile X syndrome and how these insights have led to a first series of clinical trials in fragile X patients.