Format

Send to

Choose Destination
Mol Autism. 2011 May 6;2:6. doi: 10.1186/2040-2392-2-6.

Dysregulation of fragile × mental retardation protein and metabotropic glutamate receptor 5 in superior frontal cortex of individuals with autism: a postmortem brain study.

Author information

1
Division of Neuroscience Research, Department of Psychiatry, University of Minnesota Medical School, 420 Delaware Street SE, MMC 392, Minneapolis, MN 55455, USA. fatem002@umn.edu.

Abstract

BACKGROUND:

Fragile × syndrome is caused by loss of function of the fragile × mental retardation 1 (FMR1) gene and shares multiple phenotypes with autism. We have previously found reduced expression of the protein product of FMR1 (FMRP) in vermis of adults with autism.

METHODS:

In the current study, we have investigated levels of FMRP in the superior frontal cortex of people with autism and matched controls using Western blot analysis. Because FMRP regulates the translation of multiple genes, we also measured protein levels for downstream molecules metabotropic glutamate receptor 5 (mGluR5) and γ-aminobutyric acid (GABA) A receptor β3 (GABRβ3), as well as glial fibrillary acidic protein (GFAP).

RESULTS:

We observed significantly reduced levels of protein for FMRP in adults with autism, significantly increased levels of protein for mGluR5 in children with autism and significantly increased levels of GFAP in adults and children with autism. We found no change in expression of GABRβ3. Our results for FMRP, mGluR5 and GFAP confirm our previous work in the cerebellar vermis of people with autism.

CONCLUSION:

These changes may be responsible for cognitive deficits and seizure disorder in people with autism.

Supplemental Content

Full text links

Icon for BioMed Central Icon for PubMed Central
Loading ...
Support Center