Molecular Dysregulation in Autism Spectrum Disorder

doi:10.3390/jpm11090848

Review

. 2021 Aug 27;11(9):848.

doi: 10.3390/jpm11090848.

Molecular Dysregulation in Autism Spectrum Disorder

Pritmohinder S Gill^{1

2}, Jeffery L Clothier³, Aravindhan Veerapandiyan⁴, Harsh Dweep⁵, Patricia A Porter-Gill², G Bradley Schaefer^{1

6

7}

Affiliations

¹ Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR 72202, USA.
² Arkansas Children's Research Institute, 13 Children's Way, Little Rock, AR 72202, USA.
³ Psychiatric Research Institute, University of Arkansas for Medical Sciences, Little Rock, AR 72205, USA.
⁴ Pediatric Neurology, Arkansas Children's Hospital, 1 Children's Way, Little Rock, AR 72202, USA.
⁵ The Wistar Institute, 3601 Spruce St., Philadelphia, PA 19104, USA.
⁶ Genetics and Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR 72202, USA.
⁷ Arkansas Children's Hospital NW, Springdale, AR 72762, USA.

PMID: 34575625
PMCID: PMC8466026
DOI: 10.3390/jpm11090848

Review

Molecular Dysregulation in Autism Spectrum Disorder

Pritmohinder S Gill et al. J Pers Med. 2021.

. 2021 Aug 27;11(9):848.

doi: 10.3390/jpm11090848.

Authors

Pritmohinder S Gill^{1

2}, Jeffery L Clothier³, Aravindhan Veerapandiyan⁴, Harsh Dweep⁵, Patricia A Porter-Gill², G Bradley Schaefer^{1

6

7}

Affiliations

¹ Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR 72202, USA.
² Arkansas Children's Research Institute, 13 Children's Way, Little Rock, AR 72202, USA.
³ Psychiatric Research Institute, University of Arkansas for Medical Sciences, Little Rock, AR 72205, USA.
⁴ Pediatric Neurology, Arkansas Children's Hospital, 1 Children's Way, Little Rock, AR 72202, USA.
⁵ The Wistar Institute, 3601 Spruce St., Philadelphia, PA 19104, USA.
⁶ Genetics and Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR 72202, USA.
⁷ Arkansas Children's Hospital NW, Springdale, AR 72762, USA.

PMID: 34575625
PMCID: PMC8466026
DOI: 10.3390/jpm11090848

Abstract

Autism Spectrum Disorder (ASD) comprises a heterogeneous group of neurodevelopmental disorders with a strong heritable genetic component. At present, ASD is diagnosed solely by behavioral criteria. Advances in genomic analysis have contributed to numerous candidate genes for the risk of ASD, where rare mutations and s common variants contribute to its susceptibility. Moreover, studies show rare de novo variants, copy number variation and single nucleotide polymorphisms (SNPs) also impact neurodevelopment signaling. Exploration of rare and common variants involved in common dysregulated pathways can provide new diagnostic and therapeutic strategies for ASD. Contributions of current innovative molecular strategies to understand etiology of ASD will be explored which are focused on whole exome sequencing (WES), whole genome sequencing (WGS), microRNA, long non-coding RNAs and CRISPR/Cas9 models. Some promising areas of pharmacogenomic and endophenotype directed therapies as novel personalized treatment and prevention will be discussed.

Keywords: autism spectrum disorder (ASD); biomarker; copy number variation (CNV); endophenotypes; epigenetic; genetic; knockout models; pharmacogenomics.

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Conflict of interest statement

The authors declare no conflict of interest.

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References

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1. Kanner L. Autistic disturbances of affective contact. Nervous Child. 1943;2:217–250. - PubMed
1. Bailey A., Le Couteur A., Gottesman I., Bolton P., Simonoff E., Yuzda E., Rutter M. Autism as a strongly genetic disorder: Evidence from a British twin study. Psychol. Med. 1995;25:63–77. doi: 10.1017/S0033291700028099. - DOI - PubMed
1. Steffenburg S., Gillberg C., Hellgren L., Andersson L., Gillberg I.C., Jakobsson G., Bohman M. A twin study of autism in Denmark, Finland, Iceland, Norway and Sweden. J. Child Psychol. Psychiatry. 1989;30:405–416. doi: 10.1111/j.1469-7610.1989.tb00254.x. - DOI - PubMed
1. Tick B., Bolton P., Happe F., Rutter M., Rijsdijk F. Heritability of autism spectrum disorders: A meta-analysis of twin studies. J. Child. Psychol. Psychiatry. 2016;57:585–595. doi: 10.1111/jcpp.12499. - DOI - PMC - PubMed

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[1] American Psychiatric Association . Diagnostic and Statistical Manual of Mental Disorders. 5th ed. American Psychiatric Association; Arlington, VA, USA: 2013.

[2] American Psychiatric Association . Diagnostic and Statistical Manual of Mental Disorders. 5th ed. American Psychiatric Association; Arlington, VA, USA: 2013.

[3] Kanner L. Autistic disturbances of affective contact. Nervous Child. 1943;2:217–250. - PubMed

[4] Kanner L. Autistic disturbances of affective contact. Nervous Child. 1943;2:217–250. - PubMed

[5] Bailey A., Le Couteur A., Gottesman I., Bolton P., Simonoff E., Yuzda E., Rutter M. Autism as a strongly genetic disorder: Evidence from a British twin study. Psychol. Med. 1995;25:63–77. doi: 10.1017/S0033291700028099. - DOI - PubMed

[6] Bailey A., Le Couteur A., Gottesman I., Bolton P., Simonoff E., Yuzda E., Rutter M. Autism as a strongly genetic disorder: Evidence from a British twin study. Psychol. Med. 1995;25:63–77. doi: 10.1017/S0033291700028099. - DOI - PubMed

[7] Steffenburg S., Gillberg C., Hellgren L., Andersson L., Gillberg I.C., Jakobsson G., Bohman M. A twin study of autism in Denmark, Finland, Iceland, Norway and Sweden. J. Child Psychol. Psychiatry. 1989;30:405–416. doi: 10.1111/j.1469-7610.1989.tb00254.x. - DOI - PubMed

[8] Steffenburg S., Gillberg C., Hellgren L., Andersson L., Gillberg I.C., Jakobsson G., Bohman M. A twin study of autism in Denmark, Finland, Iceland, Norway and Sweden. J. Child Psychol. Psychiatry. 1989;30:405–416. doi: 10.1111/j.1469-7610.1989.tb00254.x. - DOI - PubMed

[9] Tick B., Bolton P., Happe F., Rutter M., Rijsdijk F. Heritability of autism spectrum disorders: A meta-analysis of twin studies. J. Child. Psychol. Psychiatry. 2016;57:585–595. doi: 10.1111/jcpp.12499. - DOI - PMC - PubMed

[10] Tick B., Bolton P., Happe F., Rutter M., Rijsdijk F. Heritability of autism spectrum disorders: A meta-analysis of twin studies. J. Child. Psychol. Psychiatry. 2016;57:585–595. doi: 10.1111/jcpp.12499. - DOI - PMC - PubMed

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Molecular Dysregulation in Autism Spectrum Disorder

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Molecular Dysregulation in Autism Spectrum Disorder

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