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oai:www.ideals.illinois.edu:2142/32022 2023-07-10 col_2142_14855 col_2142_5131 com_2142_14854 com_2142_14793 com_2142_8903 com_2142_5130

Cox, Charles L. Kemper, Byron W. Cox, Charles L. Ceman, Stephanie S. Newmark, Phillip A. Pilas, Barbara Weng, Ning 2012-06-27T21:28:32Z 2012-06-27T21:28:32Z 2014-06-28T10:00:26Z 2012-05 2012-06-27T21:28:32Z 2012-05 Fragile X Syndrome (FXS) is the leading cause of inherited mental retardation, and the most common identified genetic cause of autism. Lack of production of the Fragile X Mental Retardation Protein (FMRP) leads to changes in dendritic morphology and resultant cognitive and behavioral manifestations characteristic of individuals with FXS. FMRP is an RNA-binding protein that is believed to regulate the translation of a large number of other proteins, leading to a complex and variable set of symptoms in FXS. In a mouse model of FXS, we previously observed delayed initiation of synaptically localized protein synthesis in response to neurotransmitter stimulation, as compared to wild-type mice. We now likewise have observed delayed early-phase phosphorylation of extracellular-signal regulated kinase (ERK), a nodal point for cell signaling cascades, in both neurons and thymocytes of fmr-1 KO mice. We further reported that early-phase kinetics of ERK activation in lymphocytes from human peripheral blood is delayed in a cohort of individuals with FXS, relative to normal controls, suggesting a potential biomarker to measure metabolic status of disease for individuals with FXS. Furthermore, dysregulated phosphatases, especially Protein phosphatase 2A (PP2A) may account for the delay in ERK activation. FXS and immune dysregulation is an emerging area in FXS research. We hypothesize that immune cells from FXS patients may have different gene expression and protein profiles. We first analyzed genome-wide microarray data from FXS lymphoblastoid cell, and found several immune gene sets are differentially expressed in FXS patients. We further reported that the cytokine profiles and cytokines activation profiles are dysregulated in FXS patients. These results could be used as potential cellular markers for FXS patients. Item withdrawn by Mark Zulauf (zulauf@illinois.edu) on 2012-04-19T17:05:52Z Item was in collections: University of Illinois Theses & Dissertations (ID: 1) No. of bitstreams: 1 Weng_Ning.pdf: 2099371 bytes, checksum: 4319ef3abb84bdc985d480090454cdb4 (MD5) Made available in DSpace on 2012-06-27T21:28:32Z (GMT). No. of bitstreams: 2 Weng_Ning.pdf: 2099552 bytes, checksum: 26fece9ef7f2d7a8aebfb5dfb38aabb0 (MD5) license.txt: 4059 bytes, checksum: b689e631cdfc157073cd3c3baa6dd0ec (MD5) Item marked as restricted to the 'Administrator' Group (id=1) by William Ingram (wingram2@illinois.edu) on 2012-06-27T21:32:38Z Item is restricted until 2014-06-27T21:32:23Z Item reinstated by Sarah Shreeves (sshreeve@illinois.edu) on 2014-06-28T10:00:26Z Item was in collections: Dissertations and Theses - Cell and Developmental Biology (ID: 702) Graduate Theses and Dissertations at Illinois (ID: 204) No. of bitstreams: 2 Weng_Ning.pdf: 2099552 bytes, checksum: 26fece9ef7f2d7a8aebfb5dfb38aabb0 (MD5) license.txt: 4059 bytes, checksum: b689e631cdfc157073cd3c3baa6dd0ec (MD5) Item released from any restrictions by Sarah Shreeves (sshreeve@illinois.edu) on 2014-06-28T10:00:26Z http://hdl.handle.net/2142/32022 en Copyright 2012 Ning Weng Fragile X Syndrome extracellular-signal regulated kinase extracellular-signal regulated kinase (ERK) Mitogen-activated protein kinases (MAPK) biomarker cytokine profiles flow cytometry Dysregulated ERK signal pathway and immune profiles in Fragile X Syndrome text Cell & Developmental Biology 1584 Cell and Developmental Biology 4094 University of Illinois at Urbana-Champaign Dissertation Ph.D. PHD:Cell&Develpmntl Biol -UIUC 10KS4094PHD