New perspectives on the biology of fragile X syndrome
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 …
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 …
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.
Elsevier