Fragile X syndrome and model organisms: identifying potential routes of therapeutic intervention.
Fragile X syndrome (FXS) is a cognitive disorder caused by silencing of the fragile X mental retardation 1 gene (FMR1). Since the discovery of the gene almost two decades ago, most scientific contributions have focused on identifying the molecular function of the fragile X mental retardation protein (FMRP) and understanding how absence of FMR1 gene expression gives rise to the disease phenotypes. The use of model organisms has allowed rapid progression in the FXS field and has given insight into the molecular basis of the disease. The mouse and fly FXS models have enabled studies to identify potential targets and pathways for pharmacological treatment. Here, we briefly review the two primary FXS model systems and describe how studies in these organisms have led us closer to therapeutic treatments for patients afflicted with FXS.
Bhogal
Balpreet
B
Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104-6145, USA.
Jongens
Thomas A
TA
D000818:Animals; D004195:Disease Models, Animal; D004331:Drosophila melanogaster / Q000235:genetics; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics / Q000378:metabolism; D005600:Fragile X Syndrome / Q000188:drug therapy* / Q000209:etiology / Q000235:genetics; D006801:Humans; D051379:Mice; D058990:Molecular Targeted Therapy
D051860:Fragile X Messenger Ribonucleoprotein 1