Evidence map›Paper›PMID 17486179›Full record

ArticleEpigenetics

Reduced MeCP2 expression is frequent in autism frontal cortex and correlates with aberrant MECP2 promoter methylation.

Raman P Nagarajan, Amber R Hogart, Ynnez Gwye, Michelle R Martin, Janine M LaSalle

Open access · bronzeAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Epigenetics. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 181 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
181citing papers in PubMed, 1 pooled it
7.6field-weighted citation impact, top 2% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

181 citing papers in PubMed, 1 synthesis or guideline pooled it, 343 citations in OpenAlex.

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121 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors at 2 institutions in 2 countries.

Raman P NagarajanMedical Microbiology and Immunology, Rowe Program in Human Genetics, School of Medicine, One Shields Ave, University of California, Davis, CA 95616, USA.
Amber R Hogart
Ynnez Gwye
Michelle R Martin
Janine M LaSalle
University of California, Davis · USBipar · FR

Funding

A Natonal Resource for Postmortem Brain ResearchR24MH068855 · NIMH · MC LEAN HOSPITAL (BELMONT, MA) · PI BENES, FRANCINE M. · 2003 to 2012
$14.8M
Epigenetic Etiologies of Autism-Spectrum DisordersR01HD048799 · NICHD · UNIVERSITY OF CALIFORNIA DAVIS · PI LASALLE, JANINE M · 2005 to 2009
$1.8M
NICHD NIH HHS 1R01HD048799NICHD NIH HHS R01 HD048799NIMH NIH HHS R24 MH068855NIMH NIH HHS R24MH-068855
6 · The paper itself

Abstract

Mutations in MECP2, encoding methyl CpG binding protein 2 (MeCP2), cause most cases of Rett syndrome (RTT), an X-linked neurodevelopmental disorder. Both RTT and autism are "pervasive developmental disorders" and share a loss of social, cognitive and language skills and a gain in repetitive stereotyped behavior, following apparently normal perinatal development. Although MECP2 coding mutations are a rare cause of autism, MeCP2 expression defects were previously found in autism brain. To further study the role of MeCP2 in autism spectrum disorders (ASDs), we determined the frequency of MeCP2 expression defects in brain samples from autism and other ASDs. We also tested the hypotheses that MECP2 promoter mutations or aberrant promoter methylation correlate with reduced expression in cases of idiopathic autism. MeCP2 immunofluorescence in autism and other neurodevelopmental disorders was quantified by laser scanning cytometry and compared with control postmortem cerebral cortex samples on a large tissue microarray. A significant reduction in MeCP2 expression compared to age-matched controls was found in 11/14 autism (79%), 9/9 RTT (100%), 4/4 Angelman syndrome (100%), 3/4 Prader-Willi syndrome (75%), 3/5 Down syndrome (60%), and 2/2 attention deficit hyperactivity disorder (100%) frontal cortex samples. One autism female was heterozygous for a rare MECP2 promoter variant that correlated with reduced MeCP2 expression. A more frequent occurrence was significantly increased MECP2 promoter methylation in autism male frontal cortex compared to controls. Furthermore, percent promoter methylation of MECP2 significantly correlated with reduced MeCP2 protein expression. These results suggest that both genetic and epigenetic defects lead to reduced MeCP2 expression and may be important in the complex etiology of autism.

Indexed as

DNA MethylationPromoter Regions, GeneticAdolescentAdultAmino Acid SequenceAutistic DisorderChildChild, PreschoolFemaleFrontal LobeHumansInfantMaleMethyl-CpG-Binding Protein 2Middle AgedTissue Array AnalysisMECP2 protein, humanMethyl-CpG-Binding Protein 2

Identifiers

PMID17486179
PMCPMC1866172
OpenAlexW2149522457

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.