Cited by 108Tryptophan and brain disordersAutism Spectrum Disorder ResearchNeuroinflammation and Neurodegeneration Mechanisms

Immune system gene dysregulation in autism and schizophrenia

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Michel, Maximilian, Schmidt, Martin J., Mirnics, Karoly·2012·Developmental Neurobiology

Abstract

Gene*environment interactions play critical roles in the emergence of autism and schizophrenia pathophysiology. In both disorders, recent genetic association studies have provided evidence for disease‐linked variation in immune system genes and postmortem gene expression studies have shown extensive chronic immune abnormalities in brains of diseased subjects. Furthermore, peripheral biomarker studies revealed that both innate and adaptive immune systems are dysregulated. In both disorders symptoms of the disease correlate with the immune system dysfunction; yet, in autism this process appears to be chronic and sustained, while in schizophrenia it is exacerbated during acute episodes. Furthermore, since immune abnormalities endure into adulthood and anti‐inflammatory agents appear to be beneficial, it is likely that these immune changes actively contribute to disease symptoms. Modeling these changes in animals provided further evidence that prenatal maternal immune activation alters neurodevelopment and leads to behavioral changes that are relevant for autism and schizophrenia. The converging evidence strongly argues that neurodevelopmental immune insults and genetic background critically interact and result in increased risk for either autism or schizophrenia. Further research in these areas may improve prenatal health screening in genetically at‐risk families and may also lead to new preventive and/or therapeutic strategies. © 2012 Wiley Periodicals, Inc. Develop Neurobiol, 2012

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  • Next-generation sequencing and genome-wide association studies generally find a complex and varied genomic landscape in autism.

    “researchers have utilized the advanced techniques of next-generation sequencing and genome-wide association studies (GWAS) in an attempt to divine the genetic causes of autism, generally finding a complex and varied genomic landscape (Abrahams and Geschwind, 2008;Gaugler et al, 2014;Michel et al, 2012).”

    From The Role of the Immune System in Autism Spectrum Disorder (2017) · cites this paper as Michel et al, 2012

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  1. Russell PJ Essential Genetics 2003 San Fransisco Pearson Education, Inc.

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Authors
Michel, M., Schmidt, M. J., & Mirnics, K.
Affiliations
Vanderbilt University (US)
Venue
Developmental Neurobiology
Publisher
Wiley
Published
2012-09
Volume
72
Issue
10
Pages
1277-1287
ISSN
  • 1932-8451 (ISSN-L)
  • 1932-846X
OpenAlex
W1999771966
Cited by
107
References
128
Citations by year
2026: 2 · 2025: 3 · 2024: 5 · 2023: 7 · 2022: 8 · 2021: 6 · 2020: 7 · 2019: 6 · 2018: 5 · 2017: 3 · 2016: 15 · 2015: 11 · 2014: 11 · 2013: 15 · 2012: 2
FWCI
0.81
Type
journal article
Language
en
Open access
Locations
  • Developmental Neurobiology (publishedVersion)
  • PubMed (publishedVersion)
  • Europe PMC (PubMed Central) (acceptedVersion)
  • PubMed Central (acceptedVersion)
Funders
  • National Institute of Mental Health (R01MH067234, R01MH079299, T32MH065215)
  • Eunice Kennedy Shriver National Institute of Child Health and Human Development (P30HD015052)
Topics
  • Life Sciences › Neuroscience › Biological Psychiatry › Tryptophan and brain disorders
  • Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
  • Life Sciences › Neuroscience › Neurology › Neuroinflammation and Neurodegeneration Mechanisms
Keywords
autism spectrum disorder, schizophrenia, immune system genes, gene-environment interaction, innate immunity, adaptive immunity, maternal immune activation, brain development, postmortem gene expression, peripheral biomarkers, anti-inflammatory therapy, genetic risk
MeSH terms
Animals, Autistic Disorder, Gene Expression Regulation, Humans, Schizophrenia, Genetic Predisposition to Disease, Gene-Environment Interaction

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