ArticleJournal of neurodevelopmental disorders2018
Strong correlation of downregulated genes related to synaptic transmission and mitochondria in post-mortem autism cerebral cortex.
Article in Journal of neurodevelopmental disorders, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
40 citing papers in PubMed, 61 citations in OpenAlex.
- Cortical transcriptomic dysregulation in Autism spectrum disorder: A conceptual synthesis.IBRO neuroscience reports · 2026Review
- Transcriptomic Convergence in Autism Spectrum Disorder: Synaptic, Immune-Glial and RNA-Regulatory Axes in the Human Cerebral Cortex.International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience · 2026Review
- Lower Striatal and Cortical Calretinin Interneuron Density Associated With Altered Social Behavior in Cntnap2 Knockout Mice.Autism research : official journal of the International Society for Autism Research · 2026Article
- Prenatal valproic acid exposure alters striatal proteomic signatures associated with autism spectrum disorder in mice.Translational psychiatry · 2026Article
- Transcriptomic analysis reveals synaptic dysregulation and mitochondrial dysfunction in autism spectrum disorder.Brain, behavior, & immunity - health · 2026Article
- In utero exposure to anti-Caspr2 antibody disrupts parvalbumin interneuron function in the hippocampus.Brain, behavior, and immunity · 2026Article
- Early postnatal dysfunction of ACC PV interneurons in Shank3BMolecular psychiatry · 2025Article
- Transcriptomic Convergence and the Female Protective Effect in Autism.bioRxiv : the preprint server for biology · 2025Article
- Disruptions in primary visual cortex physiology and function in a mouse model of Timothy syndrome.Cerebral cortex (New York, N.Y. : 1991) · 2025Article
- Current and future applications of light-sheet imaging for identifying molecular and developmental processes in autism spectrum disorders.Molecular psychiatry · 2024Review
- Autistic spectrum disorder (ASD) - Gene, molecular and pathway signatures linking systemic inflammation, mitochondrial dysfunction, transsynaptic signalling, and neurodevelopment.Brain, behavior, & immunity - health · 2023Article
- Cellular Diversity in Human Subgenual Anterior Cingulate and Dorsolateral Prefrontal Cortex by Single-Nucleus RNA-Sequencing.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2023Article
- Relating enhancer genetic variation across mammals to complex phenotypes using machine learning.Science (New York, N.Y.) · 2023Article
- Thyroid hormone action during GABAergic neuron maturation: The quest for mechanisms.Frontiers in endocrinology · 2023Review
- Mutations in genes related to myocyte contraction and ventricular septum development in non-syndromic tetralogy of Fallot.Frontiers in cardiovascular medicine · 2023Article
- Metabolomic biomarkers in autism: identification of complex dysregulations of cellular bioenergetics.Frontiers in psychiatry · 2023Article
- Delineating selective vulnerability of inhibitory interneurons in Alpers' syndrome.Neuropathology and applied neurobiology · 2022Article
- Genetics of glutamate and its receptors in autism spectrum disorder.Molecular psychiatry · 2022Review
- The Role of Inhibitory Interneurons in Circuit Assembly and Refinement Across Sensory Cortices.Frontiers in neural circuits · 2022Review
- Integrative Functional Genomic Analysis in Multiplex Autism Families from Kazakhstan.Disease markers · 2022Article
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundGenetic studies in autism have pinpointed a heterogeneous group of loci and genes. Further, environment may be an additional factor conferring susceptibility to autism. Transcriptome studies investigate quantitative differences in gene expression between patient-derived tissues and control. These studies may pinpoint genes relevant to pathophysiology yet circumvent the need to understand genetic architecture or gene-by-environment interactions leading to disease.
methodsWe conducted alternate gene set enrichment analyses using differentially expressed genes from a previously published RNA-seq study of post-mortem autism cerebral cortex. We used three previously published microarray datasets for validation and one of the microarray datasets for additional differential expression analysis. The RNA-seq study used 26 autism and 33 control brains in differential gene expression analysis, and the largest microarray dataset contained 15 autism and 16 control post-mortem brains.
resultsWhile performing a gene set enrichment analysis of genes differentially expressed in the RNA-seq study, we discovered that genes associated with mitochondrial function were downregulated in autism cerebral cortex, as compared to control. These genes were correlated with genes related to synaptic function. We validated these findings across the multiple microarray datasets. We also did separate differential expression and gene set enrichment analyses to confirm the importance of the mitochondrial pathway among downregulated genes in post-mortem autism cerebral cortex.
conclusionsWe found that genes related to mitochondrial function were differentially expressed in autism cerebral cortex and correlated with genes related to synaptic transmission. Our principal findings replicate across all datasets investigated. Further, these findings may potentially replicate in other diseases, such as in schizophrenia.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.