Evaluation of circulating miRNAs and mRNAs expression patterns in autism spectrum disorder

Abstract Background Autism spectrum disorder is a condition related to brain development that affects a person’s perception and socialization, resulting in problems in social interaction and communication. It has no single known cause, yet several different genes appear to be involved in autism. As...

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Autores principales: Amany H. Abdelrahman, Ola M. Eid, Mona H. Ibrahim, Safa N. Abd El-Fattah, Maha M. Eid, Nagwa A. Meguid
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Lenguaje:EN
Publicado: SpringerOpen 2021
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Acceso en línea:https://doaj.org/article/365daf5ec31448868cc9d888d4f31d50
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spelling oai:doaj.org-article:365daf5ec31448868cc9d888d4f31d502021-11-21T12:03:55ZEvaluation of circulating miRNAs and mRNAs expression patterns in autism spectrum disorder10.1186/s43042-021-00202-82090-2441https://doaj.org/article/365daf5ec31448868cc9d888d4f31d502021-11-01T00:00:00Zhttps://doi.org/10.1186/s43042-021-00202-8https://doaj.org/toc/2090-2441Abstract Background Autism spectrum disorder is a condition related to brain development that affects a person’s perception and socialization, resulting in problems in social interaction and communication. It has no single known cause, yet several different genes appear to be involved in autism. As a genetically complex disease, dysregulation of miRNA expression and miRNA–mRNA interactions might be a feature of autism spectrum disorder. The aim of the current study was to investigate the expression profile of circulating miRNA-128, miRNA-7 and SHANK gene family in ASD patients and to assess the possible influence of miRNA-128 and miRNA-7 on SHANK genes, which might provide an insight into the pathogenic mechanisms of ASD and introduce noninvasive molecular biomarkers for the disease diagnosis and prognosis. Quantitative real-time PCR technique was employed to determine expression levels of miRNA-128, miRNA-7 and SHANK gene family in blood samples of 40 autistic cases along with 30 age- and sex-matched normal volunteer subjects. Results Our study revealed a statistical significant upregulation of miRNA-128 expression levels in ASD cases compared to controls (p value < 0.001). A statistical significant difference in SHANK-3 expression was encountered on comparing cases to controls (p value < 0.001). However, miRNA-7 expression showed no significant difference between the studied groups. Conclusions MiRNA-128 and SHANK-3 gene are emerging players in the field of ASD. They are promising candidates as noninvasive biomarkers in autism. Future studies are needed to emphasize their pivotal role.Amany H. AbdelrahmanOla M. EidMona H. IbrahimSafa N. Abd El-FattahMaha M. EidNagwa A. MeguidSpringerOpenarticleASDmiR128miR7SHANK familyMedicine (General)R5-920GeneticsQH426-470ENEgyptian Journal of Medical Human Genetics, Vol 22, Iss 1, Pp 1-10 (2021)
institution DOAJ
collection DOAJ
language EN
topic ASD
miR128
miR7
SHANK family
Medicine (General)
R5-920
Genetics
QH426-470
spellingShingle ASD
miR128
miR7
SHANK family
Medicine (General)
R5-920
Genetics
QH426-470
Amany H. Abdelrahman
Ola M. Eid
Mona H. Ibrahim
Safa N. Abd El-Fattah
Maha M. Eid
Nagwa A. Meguid
Evaluation of circulating miRNAs and mRNAs expression patterns in autism spectrum disorder
description Abstract Background Autism spectrum disorder is a condition related to brain development that affects a person’s perception and socialization, resulting in problems in social interaction and communication. It has no single known cause, yet several different genes appear to be involved in autism. As a genetically complex disease, dysregulation of miRNA expression and miRNA–mRNA interactions might be a feature of autism spectrum disorder. The aim of the current study was to investigate the expression profile of circulating miRNA-128, miRNA-7 and SHANK gene family in ASD patients and to assess the possible influence of miRNA-128 and miRNA-7 on SHANK genes, which might provide an insight into the pathogenic mechanisms of ASD and introduce noninvasive molecular biomarkers for the disease diagnosis and prognosis. Quantitative real-time PCR technique was employed to determine expression levels of miRNA-128, miRNA-7 and SHANK gene family in blood samples of 40 autistic cases along with 30 age- and sex-matched normal volunteer subjects. Results Our study revealed a statistical significant upregulation of miRNA-128 expression levels in ASD cases compared to controls (p value < 0.001). A statistical significant difference in SHANK-3 expression was encountered on comparing cases to controls (p value < 0.001). However, miRNA-7 expression showed no significant difference between the studied groups. Conclusions MiRNA-128 and SHANK-3 gene are emerging players in the field of ASD. They are promising candidates as noninvasive biomarkers in autism. Future studies are needed to emphasize their pivotal role.
format article
author Amany H. Abdelrahman
Ola M. Eid
Mona H. Ibrahim
Safa N. Abd El-Fattah
Maha M. Eid
Nagwa A. Meguid
author_facet Amany H. Abdelrahman
Ola M. Eid
Mona H. Ibrahim
Safa N. Abd El-Fattah
Maha M. Eid
Nagwa A. Meguid
author_sort Amany H. Abdelrahman
title Evaluation of circulating miRNAs and mRNAs expression patterns in autism spectrum disorder
title_short Evaluation of circulating miRNAs and mRNAs expression patterns in autism spectrum disorder
title_full Evaluation of circulating miRNAs and mRNAs expression patterns in autism spectrum disorder
title_fullStr Evaluation of circulating miRNAs and mRNAs expression patterns in autism spectrum disorder
title_full_unstemmed Evaluation of circulating miRNAs and mRNAs expression patterns in autism spectrum disorder
title_sort evaluation of circulating mirnas and mrnas expression patterns in autism spectrum disorder
publisher SpringerOpen
publishDate 2021
url https://doaj.org/article/365daf5ec31448868cc9d888d4f31d50
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