Genome-wide expression studies in Autism spectrum disorder, Rett syndrome, and Down syndrome
Open accessAbstract
Though different in their aetiology, autism spectrum disorder (ASD), Rett syndrome (RTT) and Down syndrome (DS) are three neurodevelopmental disorders sharing significant clinical and neuropathological overlaps. Genome-wide expression studies are reviewed and available datasets from post-mortem brains reanalyzed to identify genes and gene pathways dysregulated in all three disorders. Our results surprisingly converge upon immune, and not neurodevelopmental genes, as the most consistently shared abnormality in genome-wide expression patterns. A dysregulated immune response, accompanied by enhanced oxidative stress and abnormal mitochondrial metabolism seemingly represents the common molecular underpinning of these neurodevelopmental disorders. This conclusion may be important for the definition of pharmacological therapies able to ameliorate clinical symptoms across these disorders.
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A model proposes that a dysregulated immune system leads to increased metabolism and reactive oxygen species pre- and postnatally, with prenatal changes in proliferation, migration, and neuronal wiring, and postnatal mitochondrial dysfunction and ROS stress leading to abnormal synaptic formation.
“Lintas et al (2012) proposed a model whereby the dysregulated immune system leads to increased metabolism and reactive oxygen species (ROS) in both the pre-and postnatal environment.They suggest that such alterations would result in prenatal changes in proliferation, migration, and neuronal wiring, while postnatal mitochondrial dysfunction and ROS stress would lead to abnormal synaptic formation.”
From The Role of the Immune System in Autism Spectrum Disorder (2017) · cites this paper as Lintas et al (2012)
In a review of genome-wide expression studies, of 464 genes identified, six of the top 10 KEGG ontology pathways were immune system functions.
“When Lintas et al (2012) reviewed several genome-wide expression studies in 2012 (including the two just mentioned), they found a strong connection to the immune system; of the 464 genes identified, six out of the top 10 KEGG ontology pathways were functions of the immune systems.”
From The Role of the Immune System in Autism Spectrum Disorder (2017) · cites this paper as Lintas et al (2012)
Immune dysregulation was a common trend in genomic studies, particularly in NK cell and cytokine pathways.
“Immune dysregulation was a common trend in genomic studies, particularly in the NK cell and cytokine pathways.”
From The Role of the Immune System in Autism Spectrum Disorder (2017) · cites this paper as Lintas et al (2012)
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- Authors
- Lintas, C., Sacco, R., & Persico, A. M.
- Affiliations
- Università Campus Bio-Medico (IT)
- Venue
- Neurobiology of Disease
- Publisher
- Elsevier BV
- Published
- 2012-01
- Volume
- 45
- Issue
- 1
- Pages
- 57-68
- ISSN
- 0969-9961 (ISSN-L)
- OpenAlex
- W1993752158
- Cited by
- 96
- References
- 99
- Citations by year
- 2025: 1 · 2024: 3 · 2023: 2 · 2022: 6 · 2021: 8 · 2020: 4 · 2019: 3 · 2018: 9 · 2017: 2 · 2016: 8 · 2015: 6 · 2014: 11 · 2013: 15 · 2012: 6
- FWCI
- 1.12
- Type
- journal article
- Language
- en
- Open access
- green
- doaj.org
- Licence
- Locations
- Neurobiology of Disease (publishedVersion)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- IRIS UNIMORE (University of Modena and Reggio Emilia) (submittedVersion, cc-by)
- Funders
- Italian Ministry for University, Scientific Research and Technology (2006058195)
- Italian Ministry of Health (RFPS-2007-5-640174)
- Autism Speaks Foundation
- Autism Research Institute
- Fondazione Gaetano e Mafalda Luce
- Autism Aids Onlus
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
- Keywords
- autism spectrum disorder, Rett syndrome, Down syndrome, neurodevelopmental disorders, immune dysregulation, oxidative stress, mitochondrial metabolism, shared molecular mechanisms, therapeutic target
- MeSH terms
- Brain, Child, Child Development Disorders, Pervasive, Down Syndrome, Humans, Rett Syndrome, Gene Expression, Genome-Wide Association Study
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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