Altered steady state and activity-dependent de novo protein expression in fragile X syndrome

Heather Bowling, Aditi Bhattacharya (), Guoan Zhang, Danyal Alam, Joseph Z. Lebowitz, Nathaniel Bohm-Levine, Derek Lin, Priyangvada Singha, Maggie Mamcarz, Rosemary Puckett, Lili Zhou, Sameer Aryal, Kevin Sharp, Kent Kirshenbaum, Elizabeth Berry-Kravis, Thomas A. Neubert and Eric Klann ()
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Heather Bowling: New York University
Aditi Bhattacharya: New York University
Guoan Zhang: New York University School of Medicine
Danyal Alam: New York University
Joseph Z. Lebowitz: New York University
Nathaniel Bohm-Levine: New York University
Derek Lin: New York University
Priyangvada Singha: Institute for Stem Cell Biology and Regenerative Medicine
Maggie Mamcarz: New York University
Rosemary Puckett: New York University
Lili Zhou: Rush University Medical Center
Sameer Aryal: New York University
Kevin Sharp: Rush University Medical Center
Kent Kirshenbaum: New York University
Elizabeth Berry-Kravis: Rush University Medical Center
Thomas A. Neubert: New York University School of Medicine
Eric Klann: New York University

Nature Communications, 2019, vol. 10, issue 1, 1-13

Abstract: Abstract Whether fragile X mental retardation protein (FMRP) target mRNAs and neuronal activity contributing to elevated basal neuronal protein synthesis in fragile X syndrome (FXS) is unclear. Our proteomic experiments reveal that the de novo translational profile in FXS model mice is altered at steady state and in response to metabotropic glutamate receptor (mGluR) stimulation, but the proteins expressed differ under these conditions. Several altered proteins, including Hexokinase 1 and Ras, also are expressed in the blood of FXS model mice and pharmacological treatments previously reported to ameliorate phenotypes modify their abundance in blood. In addition, plasma levels of Hexokinase 1 and Ras differ between FXS patients and healthy volunteers. Our data suggest that brain-based de novo proteomics in FXS model mice can be used to find altered expression of proteins in blood that could serve as disease-state biomarkers in individuals with FXS.

Date: 2019
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DOI: 10.1038/s41467-019-09553-8

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