title: New perspectives on the biology of fragile X syndrome.
abstract: Fragile X syndrome (FXS) is a trinucleotide repeat disorder caused by a CGG repeat expansion in FMR1, and loss of its protein product FMRP. Recent studies have provided increased support for the role of FMRP in translational repression via ribosomal stalling and the microRNA pathway. In neurons, particular focus has been placed on identifying the signaling pathways such as PI3K and mTOR downstream of group 1 metabotropic glutamate receptors (mGluR1/5) that regulate FMRP. New evidence also suggests that loss of FMRP causes presynaptic dysfunction and abnormal adult neurogenesis. In addition, studies on FXS stem cells especially induced pluripotent stem (iPS) cells and new sequencing efforts hold out promise for deeper understanding of the silencing process and mutation spectrum of FMR1.
authors.affiliation: Genetics and Molecular Biology Graduate Program, Emory University, Atlanta, GA 30322, USA.
authors.forename: Tao
authors.initials: T
authors.lastname: Wang
authors.forename: Steven M
authors.initials: SM
authors.lastname: Bray
authors.forename: Stephen T
authors.initials: ST
authors.lastname: Warren
mesh_terms: D000483:Alleles; D054351:Electrical Synapses / Q000235:genetics / Q000378:metabolism; D044127:Epigenesis, Genetic; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics* / Q000378:metabolism; D005600:Fragile X Syndrome / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D057026:Induced Pluripotent Stem Cells / Q000166:cytology* / Q000378:metabolism; D020935:MAP Kinase Signaling System; D020125:Mutation, Missense; D055495:Neurogenesis; D009474:Neurons / Q000378:metabolism / Q000473:pathology; D019869:Phosphatidylinositol 3-Kinases / Q000235:genetics / Q000378:metabolism; D014176:Protein Biosynthesis; D034622:RNA Interference; D018094:Receptors, Metabotropic Glutamate / Q000235:genetics / Q000378:metabolism; D058570:TOR Serine-Threonine Kinases / Q000235:genetics / Q000378:metabolism
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; D019869:Phosphatidylinositol 3-Kinases; D018094:Receptors, Metabotropic Glutamate; D058570:TOR Serine-Threonine Kinases; C497683:FMR1 protein, human; C546842:MTOR protein, human