Genetic and Epigenetic Alterations in Autism Spectrum Disorder

Bugsem Oztenekecioglu; Merdiye Mavis; Meryem Osum; Rasime Kalkan

doi:10.1055/s-0041-1735540

Global Medical Genetics, Table of Contents

CC BY 4.0 · Glob Med Genet 2021; 08(04): 144-148
DOI: 10.1055/s-0041-1735540

Review Article

Genetic and Epigenetic Alterations in Autism Spectrum Disorder

Authors

Bugsem Oztenekecioglu

¹Department of Molecular Biology and Genetics, Faculty of Arts and Sciences, Near East University, Nicosia, Cyprus
Merdiye Mavis

¹Department of Molecular Biology and Genetics, Faculty of Arts and Sciences, Near East University, Nicosia, Cyprus
Meryem Osum

¹Department of Molecular Biology and Genetics, Faculty of Arts and Sciences, Near East University, Nicosia, Cyprus
Rasime Kalkan

¹Department of Molecular Biology and Genetics, Faculty of Arts and Sciences, Near East University, Nicosia, Cyprus

²Department of Medical Genetics, Faculty of Medicine, Near East University, Nicosia, Cyprus

Abstract

It is extremely important to understand the causes of autism spectrum disorder (ASD) which is a neurodevelopmental disease. Treatment and lifelong support of autism are also important to improve the patient's life quality. In this article, several findings were explained to understand the possible causes of ASD. We draw, outline, and describe ASD and its relation with the epigenetic mechanisms. Here, we discuss, several different factors leading to ASD such as environmental, epigenetic, and genetic factors.

Keywords

genetic - epigenetic - autism spectrum disorder

Full Text

References

References
1 U.S. Department of Health and Human Services, National Institutes of Health, National Institute of Mental Health.. 2018 Retrieved from: https://www.nimh.nih.gov/health/topics/autism-spectrum-disorders-asd/index.shtml
2 Johnson CP. Early clinical characteristics of children with autism. In: Gupta VB. ed. Autistic Spectrum Disorders in Children. New York, NY: Marcel Dekker, Inc; 2004: 85-123
3 Anthes E. Taking meds during pregnancy brings autism risk benefits. Spectrum, Autism Research News. Accessed July 11, 2021 at: https://www.spectrumnews.org/news/taking-meds-during-pregnancy-brings-autism-risk-benefits/
4 Wiens D, DeSoto MC. Is high folic acid intake a risk factor for autism? A review. Brain Sci 2017; 7 (11) 149
5 Williams ZJ, Failla MD, Davis SL. et al. Thermal perceptual thresholds are typical in autism spectrum disorder but strongly related to intra-individual response variability. Sci Rep 2019; 9 (01) 12595
6 Darcy-Mahoney A, Minter B, Higgins M. et al. Probability of an autism diagnosis by gestational age. Newborn Infant Nurs Rev 2016; 16 (04) 322-326
7 Lyall K, Schmidt RJ, Hertz-Picciotto I. Maternal lifestyle and environmental risk factors for autism spectrum disorders. Int J Epidemiol 2014; 43 (02) 443-464
8 Tisato V, Silva JA, Longo G. et al. Genetics and epigenetics of one-carbon metabolism pathway in autism spectrum disorder: a sex-specific brain epigenome?. Genes (Basel) 2021; 12 (05) 782
9 Noor A, Whibley A, Marshall CR. et al; Autism Genome Project Consortium. Disruption at the PTCHD1 locus on Xp22.11 in autism spectrum disorder and intellectual disability. Sci Transl Med 2010; 2 (49) 49ra68
10 Gulani A, Weiler T. Genetics, autosomal recessive. In: StatPearls. Treasure Island. FL: StatPearls Publishing; 2021
11 Rylaarsdam L, Guemez-Gamboa A. Genetic causes and modifiers of autism spectrum disorder. Front Cell Neurosci 2019; 13: 385
12 Chaste P, Leboyer M. Autism risk factors: genes, environment, and gene-environment interactions. Dialogues Clin Neurosci 2012; 14 (03) 281-292
13 Pagnamenta AT, Khan H, Walker S. et al. Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability. J Med Genet 2011; 48 (01) 48-54
14 Durand CM, Betancur C, Boeckers TM. et al. Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat Genet 2007; 39 (01) 25-27
15 Gauthier J, Joober R, Mottron L. et al. Mutation screening of FOXP2 in individuals diagnosed with autistic disorder. Am J Med Genet A 2003; 118A (02) 172-175
16 Talebizadeh Z, Bittel DC, Miles JH. et al. No association between HOXA1 and HOXB1 genes and autism spectrum disorders (ASD). J Med Genet 2002; 39 (11) e70
17 Maud C, Ryan J, McIntosh JE, Olsson CA. The role of oxytocin receptor gene (OXTR) DNA methylation (DNAm) in human social and emotional functioning: a systematic narrative review. BMC Psychiatry 2018; 18 (01) 154
18 Kreienkamp H-J. Scaffolding proteins at the postsynaptic density: shank as the architectural framework. In: Protein-Protein Interactions as New Drug Targets. Vol. 186. Berlin, Germany: Springer; 2008: 365-380
19 Berkel S, Marshall CR, Weiss B. et al. Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation. Nat Genet 2010; 42 (06) 489-491
20 Masini E, Loi E, Vega-Benedetti AF. et al. An overview of the main genetic, epigenetic and environmental factors involved in autism spectrum disorder focusing on synaptic activity. Int J Mol Sci 2020; 21 (21) 8290
21 Eshraghi AA, Liu G, Kay SS. et al. Epigenetics and autism spectrum disorder: is there a correlation?. Front Cell Neurosci 2018; 12: 78
22 Mushtaq A, Mir US, Hunt CR. et al. Role of histone methylation in maintenance of genome integrity. Genes (Basel) 2021; 12 (07) 1000
23 Sun W, Poschmann J, Cruz-Herrera Del Rosario R. et al. Histone acetylome-wide association study of autism spectrum disorder. Cell 2016; 167 (05) 1385-1397.e11
24 Loke YJ, Hannan AJ, Craig JM. The role of epigenetic change in autism spectrum disorders. Front Neurol 2015; 6: 107
25 Gao Y, Duque-Wilckens N, Aljazi MB. et al. Loss of histone methyltransferase ASH1L in the developing mouse brain causes autistic-like behaviors. Commun Biol 2021; 4 (01) 756
26 Chahrour M, Jung SY, Shaw C. et al. MeCP2, a key contributor to neurological disease, activates and represses transcription. Science 2008; 320 (5880): 1224-1229
27 Shen W, Krautscheid P, Rutz AM, Bayrak-Toydemir P, Dugan SL. De novo loss-of-function variants of ASH1L are associated with an emergent neurodevelopmental disorder. Eur J Med Genet 2019; 62 (01) 55-60
28 Wang T, Guo H, Xiong B. et al. De novo genic mutations among a Chinese autism spectrum disorder cohort. Nat Commun 2016; 7: 13316
29 Karayiorgou M, Simon TJ, Gogos JA. 22q11.2 microdeletions: linking DNA structural variation to brain dysfunction and schizophrenia. Nat Rev Neurosci 2010; 11 (06) 402-416
30 Stenz L, Zewdie S, Laforge-Escarra T. et al. BDNF promoter I methylation correlates between post-mortem human peripheral and brain tissues. Neurosci Res 2015; 91: 1-7
31 Guillemin C, Provençal N, Suderman M. et al. DNA methylation signature of childhood chronic physical aggression in T cells of both men and women. PLoS One 2014; 9 (01) e86822
32 Zhubi A, Chen Y, Guidotti A, Grayson DR. Epigenetic regulation of RELN and GAD1 in the frontal cortex (FC) of autism spectrum disorder (ASD) subjects. Int J Dev Neurosci 2017; 62: 63-72
33 Matt L, Kirk LM, Chenaux G. et al. SynDIG4/Prrt1 is required for excitatory synapse development and plasticity underlying cognitive function. Cell Rep 2018; 22 (09) 2246-2253