Epigenetic Factors and Autism Spectrum Disorders

  title={Epigenetic Factors and Autism Spectrum Disorders},
  author={Bess M. Flashner and Mark E. Russo and Jenine E. Boileau and Derek Leong and G Ian Gallicano},
  journal={NeuroMolecular Medicine},
Autism is a complex neurodevelopmental disorder that has significant phenotypic overlap with several diseases, many of which fall within the broader category of autism spectrum disorders (ASDs). The etiology of the disorder is unclear and seems to involve a complex interplay of polygenic as well as environmental factors. We discuss evidence that suggests that epigenetic dysregulation is highly implicated as a contributing cause of ASDs and autism. Specifically, we examine neurodevelopmental… 

The contribution of epigenetics to understanding genetic factors in autism

  • Layla HallE. Kelley
  • Biology, Psychology
    Autism : the international journal of research and practice
  • 2014
A review of key findings pertaining to epigenetics in autism is provided in such a way that a broader audience of individuals who do not have a strong background in genetics may better understand this highly specific and scientific content.

Epigenetic regulation in Autism spectrum disorder

The present review will focus on the role of epigenetic regulation in defining the underlying cause for autism, where chromatin remodeling and DNA methylation have started to emerge.

Epigenetic mechanisms in autism spectrum disorder.

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The present review reports the abnormalities in epigenetic regulation on genes and genomic regions located on chromosome 15 in relation to either syndromic (15q11-q13 maternal duplication) or nonsyndromic forms of ASD.

Bridging the Gap between Genes and Behavior: Brain-Derived NeurotrophicFactor and the mTOR Pathway in Idiopathic Autism

These studies in both human idiopathic autism and the valproic acid-induced rodent model suggest that decreased signaling through the mTOR pathway can be as damaging as its over-activation.

Could Autism Be Treated Prenatally?

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Developing new pharmacotherapies for autism

Important new insights into the aetiology and neurobiology of ASD are reviewed and a strategic framework for the development of targeted pharmacotherapies for ASD is proposed, which comprises several different stages in which research findings are translated into clinical applications.

What’s in the pipeline? Drugs in development for autism spectrum disorder

A literature review was conducted to examine research published in the last 5 years between different classes of psychotropic medications and ASD and found a shift in the application of psychopharmacology in ASD and its related disorders.

Understanding environmental contributions to autism: Causal concepts and the state of science

Concepts of causation are described, the trajectory of research on nongenetic factors beginning in the 1960s is outlined, and the current state of this science is reviewed, with reflections on future directions.

Core Symptoms of Autism Improved After Vitamin D Supplementation

The case of a 32-month-old boy with ASD and vitamin D3 deficiency is reported, stressing the importance of clinical assessment of vitamin D2 deficiency and the need for vitamin D 3 supplementation in case of deficiency.



Epigenetics of autism spectrum disorders.

The potential role of epigenetic factors in the etiology of ASD is examined, particularly because epigenetic modifications do not change the primary genomic sequence, allowing risk epialleles to evade detection using standard screening strategies.

Autism and 15q11-q13 disorders: behavioral, genetic, and pathophysiological issues.

This review uses an endophenotypic approach to compare specific clusters of autistic symptomatology to features of chromosome 15q11-q13 disorders and suggests possible ties between specific phenotypic characteristics of autism and Prader-Willi syndrome, namely savant-like skills.

Searching for ways out of the autism maze: genetic, epigenetic and environmental clues

Understanding and Determining the Etiology of Autism

The goal is to identify the cause(s) of autism to understand the complex interplay between environment and gene regulation and to facilitate enhanced screening, prevention, and therapy for “at risk” and autistic patients.

The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13

Molecular genetics of autism spectrum disorder

Recent studies in families with autism spectrum disorder have identified uncommon occurrences of a novel genetic syndrome caused by disruptions of the NLGN4 gene on chromosome Xp22, and the contributions of multiple approaches to identifying the genes of interest are highlighted.

Imbalanced genomic imprinting in brain development: an evolutionary basis for the aetiology of autism

The imprinted brain theory of autism has important implications for understanding the genetic, epigenetic, neurological and cognitive bases of autism, as ultimately due to imbalances in the outcomes of intragenomic conflict between effects of maternally vs. paternally expressed genes.

Epigenetic Impacts on Neurodevelopment: Pathophysiological Mechanisms and Genetic Modes of Action

This review aims to provide an overview of the role of epigenetic deregulation in the etiopathology for neurodevelopment disease and offers a mechanism by which to explain how the environment interacts with the genome.

Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3.

An overlapping pathway of gene dysregulation within 15q11-q13 in Rett, Angelman and autism is suggested and MeCP2 is implicate in the regulation of UBE3A and GABRB3 expressions in the postnatal mammalian brain.

Epigenetic mechanisms in neurological diseases: genes, syndromes, and therapies