Research Article

Early-phase ERK activation as a biomarker for metabolic status in fragile X syndrome†

  1. Ning Weng1,
  2. Ivan Jeanne Weiler1,*,
  3. Allison Sumis2,
  4. Elizabeth Berry-Kravis3,4,5,
  5. William T. Greenough6,7

Article first published online: 1 MAY 2008

DOI: 10.1002/ajmg.b.30765

Issue

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Volume 147B, Issue 7, pages 1253–1257, 5 October 2008

Additional Information

How to Cite

Weng, N., Weiler, I. J., Sumis, A., Berry-Kravis, E. and Greenough, W. T. (2008), Early-phase ERK activation as a biomarker for metabolic status in fragile X syndrome. Am. J. Med. Genet., 147B: 1253–1257. doi: 10.1002/ajmg.b.30765

Author Information

  1. 1

    Beckman Institute, University of Illinois at Urbana-Champaign, Urbana, Illinois

  2. 2

    Rush University Medical Center, Chicago, Illinois

  3. 3

    Department of Pediatrics, Rush University Medical Center, Chicago, Illinois

  4. 4

    Department of Neurological Sciences, Rush University Medical Center, Chicago, Illinois

  5. 5

    Department of Biochemistry, Rush University Medical Center, Chicago, Illinois

  6. 6

    Departments of Psychology and Psychiatry, University of Illinois at Urbana-Champaign, Urbana, Illinois

  7. 7

    Department of Cell and Developmental Biology, University of Illinois at Urbana-Champaign, Urbana, Illinois

*Beckman Institute, University of Illinois at Urbana-Champaign, Urbana, IL.

  1. †

    Please cite this article as follows: Weng N, Weiler IJ, Sumis A, Berry-Kravis E, Greenough WT. 2008. Early-Phase ERK Activation as a Biomarker for Metabolic Status in Fragile X Syndrome. Am J Med Genet Part B 147B:1253–1257.

Publication History

  1. Issue published online: 18 SEP 2008
  2. Article first published online: 1 MAY 2008
  3. Manuscript Accepted: 11 MAR 2008
  4. Manuscript Received: 25 OCT 2007

Funded by

  • FRAXA Research Foundation
  • Spastic Paralysis Research Foundation of the Illinois-Eastern Iowa District of Kiwanis International

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Keywords:

  • FMRP;
  • MapK;
  • phospho-ERK;
  • leukocyte;
  • flow cytometry

Abstract

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 Fragile X syndrome (FXS). FMRP is an RNA-binding protein that is believed to regulate the translation of a large number (probably over 100) 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 report that early-phase kinetics of ERK activation in lymphocytes from human peripheral blood is delayed in a cohort of individuals with FXS, relative to normlal controls, suggesting a potential biomarker to measure metabolic status of disease for individuals with FXS. © 2008 Wiley-Liss, Inc.

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