Epigenetics of autism spectrum disorders.

@article{Schanen2006EpigeneticsOA,
  title={Epigenetics of autism spectrum disorders.},
  author={N. Carolyn Schanen},
  journal={Human molecular genetics},
  year={2006},
  volume={15 Spec No 2},
  pages={
          R138-50
        }
}
  • N. C. Schanen
  • Published 15 October 2006
  • Biology, Psychology
  • Human molecular genetics
The autism spectrum disorders (ASD) comprise a complex group of behaviorally related disorders that are primarily genetic in origin. Involvement of epigenetic regulatory mechanisms in the pathogenesis of ASD has been suggested by the occurrence of ASD in patients with disorders arising from epigenetic mutations (fragile X syndrome) or that involve key epigenetic regulatory factors (Rett syndrome). Moreover, the most common recurrent cytogenetic abnormalities in ASD involve maternally derived… 

Figures and Tables from this paper

Autism spectrum disorders and epigenetics.
Epigenetics, Autism Spectrum, and Neurodevelopmental Disorders
TLDR
This review highlights selected neurodevelopmental disorders in which epigenetic dysregulation plays an important role, and discusses how advances in the understanding of epigenetic mechanisms may lead to novel therapeutic approaches.
Genetics and Epigenetics of Autism Spectrum Disorders
TLDR
A better understanding of the interplay between genetic/epigenetic variations and synaptic homeostasis should shed new light on the causes of ASD and may provide means to modulate the severity of the symptoms.
Epigenetic Factors and Autism Spectrum Disorders
TLDR
Evidence that suggests that epigenetic dysregulation is highly implicated as a contributing cause of ASDs and autism is discussed and preliminary evidence suggests that elucidating the complex role of epigenetic regulations involved in ASDs could prove vital in furthering the authors' understanding of the complex etiology of autism and ASDs.
Epigenetic Findings in Autism: New Perspectives for Therapy
TLDR
Bettering the understanding of how these gene-environmental interactions create autistic symptoms should facilitate the development of therapeutic targeting of gene expression for ASD biomedical care.
Gene × Environment Interactions in Autism Spectrum Disorders: Role of Epigenetic Mechanisms
TLDR
Arguments for a genetic contribution to autism, based on updated family and twin studies, are examined and the possible role of epigenetic mechanisms reported in genetic disorders associated with ASD is discussed.
Epigenetic Regulation in Autism
TLDR
This chapter discusses matters of epigenetic heritability as it pertains to autism spectrum disorders, highlight monogenic forms of the disorder associated with disordered chromatin structure and function, and summarizes the current knowledge base as itpertains to epigenetic regulation during normal aging and development.
Genetic and epigenetic methylation defects and implication of the ERMN gene in autism spectrum disorders
TLDR
The data indicate that inherited methylation alterations detectable in blood DNA, due to either genetic or epigenetic defects, can affect gene expression and contribute to ASD susceptibility most likely in an additive manner, and implicate ERMN as a novel ASD gene.
DNA methylation signatures in autism spectrum disorders
TLDR
An overview to the DNA methylation signatures in ASD and closely associated neuropsychiatric conditions is given and the discussion of the probable therapeutics that might be developed in future is concluded.
...
1
2
3
4
5
...

References

SHOWING 1-10 OF 196 REFERENCES
Autism and 15q11-q13 disorders: behavioral, genetic, and pathophysiological issues.
TLDR
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.
Autism and maternally derived aberrations of chromosome 15q.
TLDR
Among the first 100 cases enrolled in the South Carolina Autism Project, abnormalities of chromosome 15 have emerged as the single most common cause and four abnormalities identified include deletions and duplications of proximal 15q, which occurred on the chromosome inherited from the mother.
CACNA1H Mutations in Autism Spectrum Disorders*
TLDR
Functional analysis shows that all these mutations significantly reduce CaV3.2 channel activity and thus could affect neuronal function and potentially brain development and it is concluded that the identified mutations could contribute to the development of the ASD phenotype.
A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A
TLDR
It is proposed that the twin data are compatible with oligogenic inheritance combined with a major, genetic or epigenetic, de novo component to the etiology of autism and that the Angelman gene (UBE3A), which encodes the E6‐AP ubiquitin ligase, is one of the contributing genes.
Analysis of reelin as a candidate gene for autism
TLDR
The analysis of reelin (RELN), a gene located under the authors' peak of linkage, suggests that it probably does not play a major role in autism aetiology, although further analysis of several missense mutations is warranted in additional affected individuals.
An autosomal genomic screen for autism.
TLDR
The strongest multipoint results were for regions on chromosomes 13 and 7, and the highest maximum multipoint heterogeneity LOD (MMLS/het) score is 3.0 at D13S800 under the recessive model.
Mutation screening and transmission disequilibrium study of ATP10C in autism.
TLDR
A family-based association study was conducted for 14 markers in 115 autism trios, suggesting ATP10C is unlikely to contribute strongly to susceptibility to autism in these families, but the possible functional role of the nonsynonymous SNPs and the functional implications of the SNPs identified from 5' flanking region and intron 2 splicing region may be evaluated in further studies.
Fine mapping of autistic disorder to chromosome 15q11‐q13 by use of phenotypic subtypes.
TLDR
Results narrow the region of interest on chromosome 15 to an area surrounding the gamma-aminobutyric acid-receptor subunit genes, in AutD, and support the hypothesis that the analysis of phenotypic homogeneous subtypes may be a powerful tool for the mapping of disease-susceptibility genes in complex traits.
Recent advances in fragile X: a model for autism and neurodegeneration
TLDR
Recent developments in the neurobiology of fragile X syndrome (FXS), the association between FXS and autism, and involvement in premutation carriers are described and the mGluR5 model suggests that mGLUR5 antagonists, including downstream effectors such as lithium, could be useful for treating FXS.
...
1
2
3
4
5
...