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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| Format: | Article |
| Language: | English |
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SpringerOpen
2021-11-01
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| Series: | Egyptian Journal of Medical Human Genetics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s43042-021-00202-8 |
| _version_ | 1818932671791759360 |
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| 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 |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-12-20T04:36:12Z |
| format | Article |
| id | doaj.art-365daf5ec31448868cc9d888d4f31d50 |
| institution | Directory Open Access Journal |
| issn | 2090-2441 |
| language | English |
| last_indexed | 2024-12-20T04:36:12Z |
| publishDate | 2021-11-01 |
| publisher | SpringerOpen |
| record_format | Article |
| series | Egyptian Journal of Medical Human Genetics |
| spelling | doaj.art-365daf5ec31448868cc9d888d4f31d502022-12-21T19:53:15ZengSpringerOpenEgyptian Journal of Medical Human Genetics2090-24412021-11-0122111010.1186/s43042-021-00202-8Evaluation of circulating miRNAs and mRNAs expression patterns in autism spectrum disorderAmany H. Abdelrahman0Ola M. Eid1Mona H. Ibrahim2Safa N. Abd El-Fattah3Maha M. Eid4Nagwa A. Meguid5Clinical and Chemical Pathology Department, National Research CentreDepartment of Human Cytogenetics, National Research CentreClinical and Chemical Pathology Department, National Research CentreClinical and Chemical Pathology Department, National Research CentreDepartment of Human Cytogenetics, National Research CentreDepartment of Research on Children with Special Needs, National Research CentreAbstract 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.https://doi.org/10.1186/s43042-021-00202-8ASDmiR128miR7SHANK family |
| spellingShingle | 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 Egyptian Journal of Medical Human Genetics ASD miR128 miR7 SHANK family |
| title | 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_short | 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 |
| topic | ASD miR128 miR7 SHANK family |
| url | https://doi.org/10.1186/s43042-021-00202-8 |
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