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Assessment of Apoptosis Pathway in Peripheral Blood of Autistic Patients

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Abstract

Autism spectrum disorder (ASD) includes a number of severe neurodevelopmental disorders known by defects in social interaction, impaired verbal and non-verbal interactions, and stereotypic activities and limited interests. Dysregulation of apoptotic pathways have been demonstrated in brain tissues of affected individuals. In the present study, we evaluated expression levels of apoptosis-related genes and miRNAs in peripheral blood of ASD patients compared with healthy subjects. Transcript levels of BCL2, CASP8, and hsa-29c-3p were significantly lower in total ASD patients compared with total normal children (P values = 0.003, 0.002, and 0.01 respectively). When sex of study participants was considered in the analysis, the difference in transcript levels of these genes was significant only in male subjects. Peripheral expression of BCL2 and hsa-29c-3p had 100% sensitivity 92% specificity in ASD diagnosis. The diagnostic power of combination of transcript levels of these genes was estimated to be 78% based on the calculated AUC value. The present study provides evidences for dysregulation of apoptotic pathways in peripheral blood of ASD patients and suggests certain apoptosis-related genes as biomarkers in this regard.

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Acknowledgements

The current study was supported by a grant from Hamadan University of Medical Sciences.

Funding

This study was financially supported by Hamadan University of Medical Sciences (Grant Number 961177275).

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SGF wrote the manuscript. VKO analyzed the data. MT and AK supervised the study. MME and AN performed the laboratory tests. All authors contributed to and have approved the final manuscript.

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Correspondence to Mohammad Taheri or Soudeh Ghafouri-Fard.

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The authors declare that they have no conflict of interest.

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Eftekharian, M.M., Komaki, A., Oskooie, V.K. et al. Assessment of Apoptosis Pathway in Peripheral Blood of Autistic Patients. J Mol Neurosci 69, 588–596 (2019). https://doi.org/10.1007/s12031-019-01387-9

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  • DOI: https://doi.org/10.1007/s12031-019-01387-9

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