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| Status |
Public on Aug 15, 2012 |
| Title |
Brain transcriptional and epigenetic associations with the autistic phenotype (methylation data) |
| Organism |
Homo sapiens |
| Experiment type |
Methylation profiling by array
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| Summary |
Autism is a common neurodevelopmental syndrome. Numerous rare genetic etiologies are reported; most cases are idiopathic. To uncover important gene dysregulation in autism, we analyzed carefully selected idiopathic autistic and control cerebellar and BA19 (occipital) brain tissues using high-resolution whole genome gene expression and DNA methylation microarrays. No changes in DNA methylation were identified in autistic brain but gene expression abnormalities in two areas of metabolism were apparent: down-regulation of genes of mitochondrial oxidative phosphorylation and of protein translation. We also found associations between specific behavioral domains of autism and specific brain gene expression modules related to myelin/myelination, inflammation/immune response and purinergic signaling. This work highlights two largely unrecognized molecular pathophysiological themes in autism and suggests differing molecular bases for autism behavioral endophenotypes.
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| Overall design |
In this set of DNA methylation data, 9 cerebellar autism, 9 cerebellar control, 8 BA19 (occipital cortex) autism, and 8 BA19 control samples were used. Samples are labeled with a B followed by a unique number and letter identifying the subject and brain region, followed by an optional hyphenated number indicating the technical replicates performed on sample 1.
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| Contributor(s) |
Ginsberg MR, Rubin RA, Falcone T, Ting AH, Natowicz MR |
| Citation(s) |
22984548 |
| Submission date |
Jun 08, 2012 |
| Last update date |
Jan 02, 2015 |
| Contact name |
Matthew Ginsberg |
| E-mail(s) |
ginsbem@ccf.org
|
| Phone |
607-591-1837
|
| Organization name |
Cleveland Clinic Foundation
|
| Department |
Lerner College of Medicine
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| Street address |
9500 Euclid Ave
|
| City |
Cleveland |
| State/province |
OH |
| ZIP/Postal code |
44195 |
| Country |
USA |
| |
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| Platforms (1) |
| GPL8490 |
Illumina HumanMethylation27 BeadChip (HumanMethylation27_270596_v.1.2) |
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| Samples (36)
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| This SubSeries is part of SuperSeries: |
| GSE38609 |
Brain transcriptional and epigenetic associations with the autistic phenotype |
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| Relations |
| BioProject |
PRJNA168227 |
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