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Published in: Molecular Autism 1/2014

Open Access 01-12-2014 | Research

Serum microRNA profiles in children with autism

Authors: Mahesh Mundalil Vasu, Ayyappan Anitha, Ismail Thanseem, Katsuaki Suzuki, Kohei Yamada, Taro Takahashi, Tomoyasu Wakuda, Keiko Iwata, Masatsugu Tsujii, Toshirou Sugiyama, Norio Mori

Published in: Molecular Autism | Issue 1/2014

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Abstract

Background

As regulators of gene expression, microRNAs (miRNAs) play a key role in the transcriptional networks of the developing human brain. Circulating miRNAs in the serum and plasma are remarkably stable and are suggested to have promise as noninvasive biomarkers for neurological and neurodevelopmental disorders. We examined the serum expression profiles of neurologically relevant miRNAs in autism spectrum disorder (ASD), a complex neurodevelopmental disorder characterized by multiple deficits in communication, social interaction and behavior.

Methods

Total RNA, including miRNA, was extracted from the serum samples of 55 individuals with ASD and 55 age- and sex-matched control subjects, and the mature miRNAs were selectively converted into cDNA. Initially, the expression of 125 mature miRNAs was compared between pooled control and ASD samples. The differential expression of 14 miRNAs was further validated by SYBR Green quantitative PCR of individual samples. Receiver-operating characteristic (ROC) analysis was used to evaluate the sensitivity and specificity of miRNAs. The target genes and pathways of miRNAs were predicted using DIANA mirPath software.

Results

Thirteen miRNAs were differentially expressed in ASD individuals compared to the controls. MiR-151a-3p, miR-181b-5p, miR-320a, miR-328, miR-433, miR-489, miR-572, and miR-663a were downregulated, while miR-101-3p, miR-106b-5p, miR-130a-3p, miR-195-5p, and miR-19b-3p were upregulated. Five miRNAs showed good predictive power for distinguishing individuals with ASD. The target genes of these miRNAs were enriched in several crucial neurological pathways.

Conclusions

This is the first study of serum miRNAs in ASD individuals. The results suggest that a set of serum miRNAs might serve as a possible noninvasive biomarker for ASD.
Appendix
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Metadata
Title
Serum microRNA profiles in children with autism
Authors
Mahesh Mundalil Vasu
Ayyappan Anitha
Ismail Thanseem
Katsuaki Suzuki
Kohei Yamada
Taro Takahashi
Tomoyasu Wakuda
Keiko Iwata
Masatsugu Tsujii
Toshirou Sugiyama
Norio Mori
Publication date
01-12-2014
Publisher
BioMed Central
Published in
Molecular Autism / Issue 1/2014
Electronic ISSN: 2040-2392
DOI
https://doi.org/10.1186/2040-2392-5-40

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