Cited by 347Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder ResearchEpigenetics and DNA Methylation

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Reduced MeCP2 Expression is Frequent in Autism Frontal Cortex and Correlates with Aberrant MECP2 Promoter Methylation

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Nagarajan, Raman, Hogart, Amber, Gwye, Ynnez, Martin, Michelle R, LaSalle, Janine M.·2006·Epigenetics

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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.

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Authors: Nagarajan, R., Hogart, A., Gwye, Y., Martin, M. R., & LaSalle, J. M.
Affiliations: University of California, Davis (US)
ORCID: Nagarajan, Raman
LaSalle, Janine M.
Venue: Epigenetics
Publisher: Informa UK Limited
Published: 2006-10-23
Volume: 1
Issue: 4
Pages: 172-182
ISSN: 1559-2294 (ISSN-L)
1559-2308
DOI: 10.4161/epi.1.4.3514
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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Reduced MeCP2 Expression is Frequent in Autism Frontal Cortex and Correlates with Aberrant MECP2 Promoter Methylation

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