Phosphorylated fragile X mental retardation protein at serine 499, is reduced in cerebellar vermis and superior frontal cortex of subjects with autism: Implications for fragile X mental retardation protein-metabotropic glutamate receptor 5 signaling

Øyvind G. Rustan, Timothy D. Folsom, Mahtab K. Yousefi, S H Fatemi

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11 Scopus citations

Abstract

Lohith et al. (Mol Autism 4:15, 2013) recently identified increased metabotropic glutamate receptor 5 (mGluR5) expression in the frontal cortex (FC) of subjects with fragile X syndrome. These results are consistent with postmortem findings in cerebellar vermis and FC of subjects with autism (Fatemi and Folsom, Mol Autism 2:6, 2011; Fatemi et al. Anat Rec 294:1635-1645, 2011), suggesting that increased mGluR5 signaling is common to multiple autism spectrum disorders. Increased mGluR5 signaling may be associated with reduced phosphorylation of fragile X mental retardation protein (FMRP), which could result in the inactivation of this protein. In the current study, we report on reduced expression of phosphorylated FMRP in cerebellar vermis of adults and children with autism and in FC of adults with autism.

Original languageEnglish (US)
Article number41
JournalMolecular Autism
Volume4
Issue number1
DOIs
StatePublished - Nov 1 2013

Bibliographical note

Funding Information:
Human tissue was obtained from the NICHD Brain and Tissue Bank for Developmental Disorders, University of Maryland, Baltimore, MD (the role of the NICHD Brain and Tissue Bank is to distribute tissue, and therefore cannot endorse the studies performed or the interpretation of results); the Harvard Brain Tissue Resource Center, which is supported in part by Public Health Service grant number R24 MH068855; the Brain Endowment Bank, which is funded in part by the National Parkinson Foundation, Inc., Miami, Florida; and the Autism Tissue Program, and is gratefully acknowledged. Grant support by the National Institute of Child Health and Human Development (#5R01HD052074-01A2 and 3R01HD052074-03S1) and the Minnesota Medical Foundation Alfred and Ingrid Lenz Harrison Autism Initiative Fund to SHF is gratefully acknowledged. SHF is also supported by the Bernstein Endowed Chair in Adult Psychiatry. Grant support from an Undergraduate Research Opportunities Program (UROP) from the University of Minnesota to OGR is gratefully acknowledged. The funding body had no role in the study design, collection, analysis and interpretation of data, in the writing of the manuscript or in the decision to submit the manuscript for publication. We appreciate the statistical help provided by Dr P Thuras.

Keywords

  • Cerebellar vermis
  • FMRP
  • Phosphorylation of FMRP
  • Superior frontal cortex
  • mGluR5

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