Cited by 235Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental DisordersEpigenetics and DNA Methylation

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Autism Spectrum Disorders and Epigenetics

Grafodatskaya, Daria, Chung, Brian, Szatmari, Peter, Weksberg, Rosanna·2010·Journal of the American Academy of Child & Adolescent Psychiatry

DOI 10.1016/j.jaac.2010.05.005

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Abstract

Objective Current research suggests that the causes of autism spectrum disorders (ASD) are multifactorial and include both genetic and environmental factors. Several lines of evidence suggest that epigenetics also plays an important role in ASD etiology and that it might, in fact, integrate genetic and environmental influences to dysregulate neurodevelopmental processes. The objective of this review is to illustrate how epigenetic modifications that are known to alter gene expression without changing primary DNA sequence may play a role in the etiology of ASD.Method In this review, we summarize current knowledge about epigenetic modifications to genes and genomic regions possibly involved in the etiology of ASD.Results Several genetic syndromes comorbid with ASD, which include Rett, Fragile X, Prader-Willi, Angelman, and CHARGE (Coloboma of the eye, Heart defects, Atresia of the nasal choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, and Ear abnormalities and deafness), all demonstrate dysregulation of epigenetic marks or epigenetic mechanisms. We report also on genes or genomic regions exhibiting abnormal epigenetic regulation in association with either syndromic (15q11-13 maternal duplication) or nonsyndromic forms of ASD. Finally, we discuss the state of current knowledge regarding the etiologic role of environmental factors linked to both the development of ASD and epigenetic dysregulation.Conclusion Data reviewed in this article highlight a variety of situations in which epigenetic dysregulation is associated with the development of ASD, thereby supporting a role for epigenetics in the multifactorial etiologies of ASD.

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Lord, C., Risi, S., Lambrecht, L., Cook, E. H., Leventhal, B. L., DiLavore, P. C., Pickles, A., & Rutter, M. (2000) · Journal of Autism and Developmental Disorders · doi:10.1023/a:1005592401947 · Cited by 7,520
Diagnostic and Statistical Manual of Mental Disorders ( DSM ‐ IV ‐ TR )
Segal, D. L. (2010) · Wiley eBooks · doi:10.1002/9780470479216.corpsy0271 · Cited by 4,687
Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex
Nan, X., Ng, H.-H., Johnson, C. A., Laherty, C. D., Turner, B. M., Eisenman, R. N., & Bird, A. (1998) · Nature · doi:10.1038/30764 · Cited by 3,440
DNA methylation landscapes: Provocative insights from epigenomics
Suzuki, M. M., & Bird, A. (2008) · Nature Reviews Genetics · doi:10.1038/nrg2341 · Cited by 3,039
Perceptions of epigenetics
Bird, A. (2007) · Nature · doi:10.1038/nature05913 · Cited by 3,011
Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription
Jones, P. L., Veenstra, G. J. C., Wade, P. A., Vermaak, D., Kass, S. U., Landsberger, N., Strouboulis, J., & Wolffe, A. P. (1998) · Nature Genetics · doi:10.1038/561 · Cited by 2,791
Advances in autism genetics: on the threshold of a new neurobiology
Abrahams, B. S., & Geschwind, D. H. (2008) · Nature Reviews Genetics · doi:10.1038/nrg2346 · Cited by 1,866
MeCP2, a Key Contributor to Neurological Disease, Activates and Represses Transcription
Chahrour, M., Jung, S. Y., Shaw, C., Zhou, X., Wong, S. T. C., Qin, J., & Zoghbi, H. Y. (2008) · Science · doi:10.1126/science.1153252 · Cited by 1,823
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Phiel, C. J., Zhang, F., Huang, E. Y., Guenther, M. G., Lazar, M. A., & Klein, P. S. (2001) · Journal of Biological Chemistry · doi:10.1074/jbc.m101287200 · Cited by 1,758
Association between Microdeletion and Microduplication at 16p11.2 and Autism
Weiss, L. A., Shen, Y., Korn, J. M., Arking, D. E., Miller, D. T., Fossdal, R., Saemundsen, E., Stefansson, H., Ferreira, M. A. R., Green, T., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa075974 · Cited by 1,666

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Zapella, 1990, Autistic features in children affected by cerebral gigantism, Brain Dysfunction, 3, 241
Boris, 2004, Association of MTHFR gene variants with autism, J Am Phys Surgeons, 9, 106

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Authors: Grafodatskaya, D., Chung, B., Szatmari, P., & Weksberg, R.
Affiliations: Hospital for Sick Children (CA)
Corresponding author: Weksberg, Rosanna
ORCID: Grafodatskaya, Daria
Chung, Brian
Weksberg, Rosanna
Venue: Journal of the American Academy of Child & Adolescent Psychiatry
Publisher: Elsevier BV
Published: 2010-08
Volume: 49
Issue: 8
Pages: 794-809
ISSN: 0890-8567 (ISSN-L)
DOI: 10.1016/j.jaac.2010.05.005
OpenAlex: W1986743339
Cited by: 235
References: 183
Citations by year: 2026: 6 · 2025: 9 · 2024: 11 · 2023: 10 · 2022: 9 · 2021: 14 · 2020: 11 · 2019: 9 · 2018: 8 · 2017: 16 · 2016: 16 · 2015: 17 · 2014: 18 · 2013: 27 · 2012: 22
FWCI: 1.84
Type: journal article
Language: en
Open access: closed
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Locations: Journal of the American Academy of Child & Adolescent Psychiatry (publishedVersion)
PubMed (publishedVersion)
The HKU Scholars Hub (University of Hong Kong) (submittedVersion)
Funders: Canadian Institutes of Health Research
Topics: Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Epigenetics and DNA Methylation
Keywords: autism spectrum disorder, epigenetics, epigenetic dysregulation, ASD etiology, brain development, Rett syndrome, fragile X syndrome, Prader-Willi syndrome, Angelman syndrome, CHARGE syndrome, environmental factors, gene expression regulation
MeSH terms: Adolescent, Child, Child Development Disorders, Pervasive, Chromosomes, Human, Pair 15, Fragile X Syndrome, Humans, Prader-Willi Syndrome, Risk Factors, Social Environment, Turner Syndrome, Rett Syndrome, Comorbidity, Angelman Syndrome, Genetic Predisposition to Disease, Epigenesis, Genetic, Genetic Association Studies, Megalencephaly, CHARGE Syndrome

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