Our Research This page contains tooltip text
The main research focus of the Hagerman laboratory is on the pathogenic mechanisms that cause fragile X syndrome and fragile X-associated tremor/ataxia syndrome (FXTAS). Although both fragile X syndrome and FXTAS are caused by CGG-repeat expansions in the fragile X mental retardation 1 (FMR1) gene; the two disorders affect different groups of individuals, and operate through entirely different molecular genetic mechanisms. Understanding the alterations of FMR1 gene expression that lead to these two separate disorders, and the development of targeted therapies for both fragile X syndrome and FXTAS, are the fundamental objectives of the lab.
Schematic of the two separate pathogenic mechanisms leading to FXTAS (“RNA toxicity”) and fragile X syndrome (absence of FMR1 protein), depending on the size of the CGG repeat (Gold). For CGG repeats greater than 200 (full mutation range), the promoter region of the gene is hypermethylated (Pink) and silenced.