Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes

Chao, Hsiao-Tuan; Chen, Hongmei; Samaco, Rodney C.; Xue, Mingshan; Chahrour, Maria; Yoo, Jong; Neul, Jeffrey L.; Gong, Shiaoching; Lu, Hui-Chen; Heintz, Nathaniel; Ekker, Marc; Rubenstein, John L. R.; Noebels, Jeffrey L.; Rosenmund, Christian; Zoghbi, Huda Y.

doi:10.1038/nature09582

Cited by 1,168Genetics and Neurodevelopmental DisordersNeuroscience and Neuropharmacology ResearchAutism Spectrum Disorder Research

Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes

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Chao, Hsiao-Tuan, Chen, Hongmei, Samaco, Rodney C., Xue, Mingshan, Chahrour, Maria, Yoo, Jong, Neul, Jeffrey L., Gong, Shiaoching +7 more·2010·Nature

DOI 10.1038/nature09582PMC PMC3057962

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Abstract

Mutations in the X-linked MECP2 gene, which encodes the transcriptional regulator methyl-CpG-binding protein 2 (MeCP2), cause Rett syndrome and several neurodevelopmental disorders including cognitive disorders, autism, juvenile-onset schizophrenia and encephalopathy with early lethality. Rett syndrome is characterized by apparently normal early development followed by regression, motor abnormalities, seizures and features of autism, especially stereotyped behaviours. The mechanisms mediating these features are poorly understood. Here we show that mice lacking Mecp2 from GABA (γ-aminobutyric acid)-releasing neurons recapitulate numerous Rett syndrome and autistic features, including repetitive behaviours. Loss of MeCP2 from a subset of forebrain GABAergic neurons also recapitulates many features of Rett syndrome. MeCP2-deficient GABAergic neurons show reduced inhibitory quantal size, consistent with a presynaptic reduction in glutamic acid decarboxylase 1 (Gad1) and glutamic acid decarboxylase 2 (Gad2) levels, and GABA immunoreactivity. These data demonstrate that MeCP2 is critical for normal function of GABA-releasing neurons and that subtle dysfunction of GABAergic neurons contributes to numerous neuropsychiatric phenotypes.

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Mecp2 knockout, a model of Rett syndrome, shows repetitive behaviors and stereotypies even when the gene is removed selectively from interneurons.
“One of the best described ASD models, knockout of the gene responsible for Rett syndrome, methyl CpG binding protein 2 (Mecp2), shows repetitive behaviors and stereotypies even if the gene is selectively removed from INs only [54].”
From Parvalbumin interneuron vulnerability and brain disorders (2021) · cites this paper as [54]
Mutations of the MeCP2 gene are associated with several behavioral features characteristic for ASDs, such as repetitive and impaired social behavior.
“several behavioral features characteristic for ASDs, such as repetitive and impaired social behavior”
From Neuronal Dynamics and Neuropsychiatric Disorders: Toward a Translational Paradigm for Dysfunctional Large-Scale Networks (2012) · cites this paper as Chao et al., 2010

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Authors: Chao, H.-T., Chen, H., Samaco, R. C., Xue, M., Chahrour, M., Yoo, J., Neul, J. L., Gong, S., Lu, H.-C., Heintz, N., Ekker, M., Rubenstein, J. L. R., Noebels, J. L., Rosenmund, C., & Zoghbi, H. Y.
Affiliations: Baylor College of Medicine (US)
Howard Hughes Medical Institute (US)
University of Ottawa (CA)
University of California, San Francisco (US)
Corresponding author: Rosenmund, Christian
Zoghbi, Huda Y.
ORCID: Chao, Hsiao-Tuan
Chen, Hongmei
Samaco, Rodney C.
Xue, Mingshan
Chahrour, Maria
Neul, Jeffrey L.
Gong, Shiaoching
Lu, Hui-Chen
Heintz, Nathaniel
Ekker, Marc
Rubenstein, John L. R.
Noebels, Jeffrey L.
Rosenmund, Christian
Zoghbi, Huda Y.
Venue: Nature
Publisher: Springer Science and Business Media LLC
Published: 2010-11
Volume: 468
Issue: 7321
Pages: 263-269
ISSN: 0028-0836 (ISSN-L)
1476-4687
DOI: 10.1038/nature09582
PMC: PMC3057962
OpenAlex: W2129032286
Cited by: 1,168
References: 51
Citations by year: 2026: 40 · 2025: 43 · 2024: 51 · 2023: 49 · 2022: 68 · 2021: 101 · 2020: 85 · 2019: 80 · 2018: 68 · 2017: 78 · 2016: 89 · 2015: 81 · 2014: 89 · 2013: 84 · 2012: 97
FWCI: 43.27
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Licence: www.springer.com/tdm (tdm)
Locations: Nature (publishedVersion)
PubMed (publishedVersion)
Europe PMC (PubMed Central) (acceptedVersion)
PubMed Central (acceptedVersion)
RePEc: Research Papers in Economics (submittedVersion)
eScholarship (California Digital Library) (submittedVersion)
Funders: Howard Hughes Medical Institute
U.S. Public Health Service (29709)
National Institute of Mental Health (F31MH078678)
National Institute of Neurological Disorders and Stroke (K08NS052240, R01NS048884, T32NS043124, R01NS057819)
Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD 024064, R01HD062553, P30HD024064, HD053862)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neuroscience and Neuropharmacology Research
Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
Keywords: Rett syndrome, MeCP2, GABAergic neurons, GABA signalling, repetitive behavior, inhibitory neurotransmission, glutamic acid decarboxylase, presynaptic inhibition, neuropsychiatric disorders, cell type-specific gene deletion, mouse model
MeSH terms: Animals, Autistic Disorder, Brain, Compulsive Behavior, Disease Models, Animal, Electroencephalography, gamma-Aminobutyric Acid, Genotype, Glutamate Decarboxylase, Hippocampus, Male, Mice, Transgenic, Neural Inhibition, Synaptic Transmission, Neuronal Plasticity, Neurons, Phenotype, Psychomotor Disorders, Respiration, Reflex, Startle, Signal Transduction, Rett Syndrome, Survival Rate, Self-Injurious Behavior, Presynaptic Terminals, Long-Term Potentiation, Homeodomain Proteins, Stereotypic Movement Disorder, Vesicular Inhibitory Amino Acid Transport Proteins, Mice, Methyl-CpG-Binding Protein 2, Inhibitory Postsynaptic Potentials

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Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes

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