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Genetics and Epigenetics of One-Carbon Metabolism Pathway in Autism Spectrum Disorder: A Sex-Specific Brain Epigenome?

by 1,2,*,†, 3,†, 3, 3, 4,5, 1 and 2,3,6,*,†
1
Department of Translational Medicine and LTTA Centre, University of Ferrara, 44121 Ferrara, Italy
2
University Center for Studies on Gender Medicine, University of Ferrara, 44121 Ferrara, Italy
3
Department of Translational Medicine, University of Ferrara, 44121 Ferrara, Italy
4
Physical Intelligence Department, Max Planck Institute for Intelligent Systems, 70569 Stuttgart, Germany
5
Department of Chemical and Product Safety German Federal Institute (BfR), Max-Dohrnstr 8-10, 10589 Berlin, Germany
6
Centre of Hemostasis & Thrombosis, University of Ferrara, 44121 Ferrara, Italy
*
Authors to whom correspondence should be addressed.
Equally contributed.
Academic Editor: Zeynep HTümer
Genes 2021, 12(5), 782; https://doi.org/10.3390/genes12050782
Received: 26 March 2021 / Revised: 8 May 2021 / Accepted: 17 May 2021 / Published: 20 May 2021
(This article belongs to the Special Issue Genetics of Neurodevelopmental Disorders)
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition affecting behavior and communication, presenting with extremely different clinical phenotypes and features. ASD etiology is composite and multifaceted with several causes and risk factors responsible for different individual disease pathophysiological processes and clinical phenotypes. From a genetic and epigenetic side, several candidate genes have been reported as potentially linked to ASD, which can be detected in about 10–25% of patients. Folate gene polymorphisms have been previously associated with other psychiatric and neurodegenerative diseases, mainly focused on gene variants in the DHFR gene (5q14.1; rs70991108, 19bp ins/del), MTHFR gene (1p36.22; rs1801133, C677T and rs1801131, A1298C), and CBS gene (21q22.3; rs876657421, 844ins68). Of note, their roles have been scarcely investigated from a sex/gender viewpoint, though ASD is characterized by a strong sex gap in onset-risk and progression. The aim of the present review is to point out the molecular mechanisms related to intracellular folate recycling affecting in turn remethylation and transsulfuration pathways having potential effects on ASD. Brain epigenome during fetal life necessarily reflects the sex-dependent different imprint of the genome-environment interactions which effects are difficult to decrypt. We here will focus on the DHFR, MTHFR and CBS gene-triad by dissecting their roles in a sex-oriented view, primarily to bring new perspectives in ASD epigenetics. View Full-Text
Keywords: brain-epigenome; one-carbon metabolism genes; folate; SNPs; gene variants; epigenetics; autism spectrum disorder (ASD); sex-gap; gender-gap brain-epigenome; one-carbon metabolism genes; folate; SNPs; gene variants; epigenetics; autism spectrum disorder (ASD); sex-gap; gender-gap
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MDPI and ACS Style

Tisato, V.; Silva, J.A.; Longo, G.; Gallo, I.; Singh, A.V.; Milani, D.; Gemmati, D. Genetics and Epigenetics of One-Carbon Metabolism Pathway in Autism Spectrum Disorder: A Sex-Specific Brain Epigenome? Genes 2021, 12, 782. https://doi.org/10.3390/genes12050782

AMA Style

Tisato V, Silva JA, Longo G, Gallo I, Singh AV, Milani D, Gemmati D. Genetics and Epigenetics of One-Carbon Metabolism Pathway in Autism Spectrum Disorder: A Sex-Specific Brain Epigenome? Genes. 2021; 12(5):782. https://doi.org/10.3390/genes12050782

Chicago/Turabian Style

Tisato, Veronica, Juliana A. Silva, Giovanna Longo, Ines Gallo, Ajay V. Singh, Daniela Milani, and Donato Gemmati. 2021. "Genetics and Epigenetics of One-Carbon Metabolism Pathway in Autism Spectrum Disorder: A Sex-Specific Brain Epigenome?" Genes 12, no. 5: 782. https://doi.org/10.3390/genes12050782

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