Reduced meCP2 expression is frequent in autism frontal cortex and correlates with aberrant MECP2 promoter methylation
Open accessAbstract
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.
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In ASD, global methylation differences are observed in neuronal development genes.
“In ASD, global methylation differences are observed in neuronal development genes”
From The clinical use of epigenetics in psychiatry: a narrative review of epigenetic mechanisms, key candidate genes, and precision psychiatry (2025) · cites this paper as [18]
The Epigenetic Alteration of MECP2 in Autism section (e7) reports increased methylation of the MECP2 promoter in autism frontal-cortex samples compared with controls. This supports an ASD-associated methylation difference, but the study examines a specific gene promoter, not global methylation differences across neuronal-development genes. (LLM, conf=0.88)
Experimental — accuracy not yet measuredIn MECP2, both mutations and methylation abnormalities interact to disrupt synaptic development.
“In MECP2, both mutations and methylation abnormalities interact to disrupt synaptic development”
From The clinical use of epigenetics in psychiatry: a narrative review of epigenetic mechanisms, key candidate genes, and precision psychiatry (2025) · cites this paper as [18]
The paper discusses MECP2 mutations in its introductory material and reports increased MECP2 promoter methylation correlated with reduced MeCP2 expression in autism frontal cortex (Epigenetic Alteration of MECP2 in Autism, e7). It does not show that mutations and methylation abnormalities interact, or that their interaction disrupts synaptic development. (LLM, conf=0.86)
Experimental — accuracy not yet measuredSome transcription factors that lack a methyl-CpG binding domain can interact with methylated DNA.
“evidence is emerging to suggest that transcription factors lacking a MBD can also interact with methylated DNA”
From Transcription factors as readers and effectors of DNA methylation (2016) · cites this paper as [26]
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- Authors
- Nagarajan, R., Hogart, A., Gwye, Y., Martin, M. R., & LaSalle, J. M.
- Affiliations
- University of California, Davis (US)
- Venue
- Epigenetics
- Publisher
- Informa UK Limited
- Published
- 2006-10-23
- Volume
- 1
- Issue
- 4
- Pages
- 172-182
- ISSN
- 1559-2294 (ISSN-L)
- 1559-2308
- PMC
- PMC1866172
- OpenAlex
- W2149522457
- Cited by
- 347
- References
- 56
- Citations by year
- 2026: 3 · 2025: 9 · 2024: 12 · 2023: 11 · 2022: 19 · 2021: 24 · 2020: 20 · 2019: 17 · 2018: 11 · 2017: 15 · 2016: 23 · 2015: 34 · 2014: 23 · 2013: 28 · 2012: 16
- FWCI
- 7.33
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Epigenetics (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- University of Miami
- National Institutes of Health
- National Institute of Mental Health (R24MH068855)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD048799)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Epigenetics and DNA Methylation
- Keywords
- MeCP2, autism spectrum disorder, Rett syndrome, promoter mutations, frontal cortex, Angelman syndrome, Prader-Willi syndrome, Down syndrome, attention deficit hyperactivity disorder, epigenetic defects, neurodevelopmental disorders, pervasive developmental disorders
- MeSH terms
- Adolescent, Adult, Amino Acid Sequence, Autistic Disorder, Child, Child, Preschool, Female, Frontal Lobe, Humans, Infant, Male, Middle Aged, Promoter Regions, Genetic, DNA Methylation, Tissue Array Analysis, Methyl-CpG-Binding Protein 2
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