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Related Experiment Videos

Autism and environmental genomics.

M R Herbert1, J P Russo, S Yang

  • 1Pediatric Neurology, Massachusetts General Hospital, Harvard Medical School, USA. mherbert1@partners.org

Neurotoxicology
|April 29, 2006
PubMed
Summary
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Autism spectrum disorder (ASD) is a complex condition influenced by genetics and environment. New research suggests focusing on environmentally responsive genes and systemic impacts may improve understanding of autism genetics.

Area of Science:

  • Neurogenetics
  • Developmental Neuroscience
  • Computational Biology

Background:

  • Autism spectrum disorders (ASD) are behaviorally defined with no current biomarkers, presenting significant etiological heterogeneity.
  • Historically, ASD research focused on neurobiological and genetic factors due to brain abnormalities and high monozygotic twin concordance.
  • Emerging evidence suggests ASD is a multisystem disorder, with genetic and environmental contributors impacting various bodily systems.

Purpose of the Study:

  • To review evidence supporting a multisystem view of ASD, incorporating environmental influences.
  • To investigate the role of "environmentally responsive genes" not traditionally linked to the nervous system in ASD.
  • To expand the criteria for identifying candidate ASD genes beyond neurobiological focus.

Main Methods:

Related Experiment Videos

  • Literature review of systemic abnormalities and genetic influences in ASD.
  • Bioinformatic analysis overlapping environmental and immune gene databases with autism genome scan linkage regions.
  • Identification of novel candidate genes within linkage regions, including those with functional SNPs.

Main Results:

  • A review of evidence supports a multisystem disorder model for ASD.
  • Bioinformatic analysis identified 135 genes in autism linkage regions, with 56 previously unstudied in ASD.
  • 47 identified genes possessed functional single nucleotide polymorphisms (SNPs) in coding regions.

Conclusions:

  • The study supports broadening the scope of autism genetics research to include genes related to systemic impacts and environmental responsiveness.
  • Environmental genomic resources are valuable for identifying relevant genes within linkage regions.
  • Understanding gene-environment interactions is crucial for unraveling the complex etiology of autism.