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.
Early-phase ERK activation as a biomarker for metabolic status in fragile X syndrome†
Article first published online: 1 MAY 2008
Copyright © 2008 Wiley-Liss, Inc.
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Volume 147B, Issue 7, pages 1253–1257, 5 October 2008
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
- Issue published online: 18 SEP 2008
- Article first published online: 1 MAY 2008
- Manuscript Accepted: 11 MAR 2008
- Manuscript Received: 25 OCT 2007
- FRAXA Research Foundation
- Spastic Paralysis Research Foundation of the Illinois-Eastern Iowa District of Kiwanis International
- flow cytometry
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.