Heterogeneous dysregulation of microRNAs across the autism spectrum
Abstract
microRNAs (miRNAs) are approximately 21 nt transcripts capable of regulating the expression of many mRNAs and are abundant in the brain. miRNAs have a role in several complex diseases including cancer as well as some neurological diseases such as Tourette's syndrome and Fragile x syndrome. As a genetically complex disease, dysregulation of miRNA expression might be a feature of autism spectrum disorders (ASDs). Using multiplex quantitative polymerase chain reaction (PCR), we compared the expression of 466 human miRNAs from postmortem cerebellar cortex tissue of individuals with ASD (n = 13) and a control set of non-autistic cerebellar samples (n = 13). While most miRNAs levels showed little variation across all samples suggesting that autism does not induce global dysfunction of miRNA expression, some miRNAs among the autistic samples were expressed at significantly different levels compared to the mean control value. Twenty-eight miRNAs were expressed at significantly different levels compared to the non-autism control set in at least one of the autism samples. To validate the finding, we reversed the analysis and compared each non-autism control to a single mean value for each miRNA across all autism cases. In this analysis, the number of dysregulated miRNAs fell from 28 to 9 miRNAs. Among the predicted targets of dysregulated miRNAs are genes that are known genetic causes of autism such Neurexin and SHANK3. This study finds that altered miRNA expression levels are observed…
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Dysregulated miRNA has been implicated in ASD.
“Dysregulated miRNA has been implicated in ASD [6–8].”
From Sterol and lipid analyses identifies hypolipidemia and apolipoprotein disorders in autism associated with adaptive functioning deficits (2021) · cites this paper as [7]
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- Authors
- Abu-Elneel, K., Liu, T., Gazzaniga, F. S., Nishimura, Y., Wall, D. P., Geschwind, D. H., Lao, K., & Kosik, K. S.
- Affiliations
- University of California, Santa Barbara (US)
- University of California, Los Angeles (US)
- Harvard University (US)
- Corresponding author
- Kosik, Kenneth S.
- ORCID
- Venue
- neurogenetics
- Published
- 2008-07
- Volume
- 9
- Issue
- 3
- Pages
- 153-161
- ISSN
- 1364-6745 (ISSN-L)
- 1364-6753
- OpenAlex
- W2122665832
- Cited by
- 271
- References
- 6
- Citations by year
- 2026: 7 · 2025: 10 · 2024: 7 · 2023: 14 · 2022: 10 · 2021: 18 · 2020: 12 · 2019: 18 · 2018: 9 · 2017: 12 · 2016: 21 · 2015: 18 · 2014: 24 · 2013: 16 · 2012: 26
- FWCI
- 8.27
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Neurogenetics (publishedVersion)
- PubMed (publishedVersion)
- Funders
- W. M. Keck Foundation
- University of California, Santa Barbara
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › MicroRNA in disease regulation
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- microRNA expression, autism spectrum disorder, cerebellar cortex, postmortem brain, microRNA dysregulation, miRNA target genes, neurexin, SHANK3
- MeSH terms
- Autistic Disorder, Cerebellar Cortex, Gene Expression Regulation, Genetic Markers, Humans, Phenotype, Case-Control Studies, Polymerase Chain Reaction, MicroRNAs
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