Mitochondrial and ion channel gene alterations in autism

Biochim Biophys Acta. 2012 Oct;1817(10):1796-802. doi: 10.1016/j.bbabio.2012.04.004. Epub 2012 Apr 17.


To evaluate the potential importance in autistic subjects of copy number variants (CNVs) that alter genes of relevance to bioenergetics, ionic metabolism, and synaptic function, we conducted a detailed microarray analysis of 69 autism probands and 35 parents, compared to 89 CEU HapMap controls. This revealed that the frequency CNVs of≥100kb and CNVs of≥10 Kb were markedly increased in probands over parents and in probands and parents over controls. Evaluation of CNVs≥1Mb by chromosomal FISH confirmed the molecular identity of a subset of the CNVs, some of which were associated with chromosomal rearrangements. In a number of the cases, CNVs were found to alter the copy number of genes that are important in mitochondrial oxidative phosphorylation (OXPHOS), ion and especially calcium transport, and synaptic structure. Hence, autism might result from alterations in multiple bioenergetic and metabolic genes required for mental function. This article is part of a Special Issue entitled: 17th European Bioenergetics Conference (EBEC 2012).

Publication types

  • Clinical Trial
  • Multicenter Study
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Autistic Disorder / genetics*
  • Autistic Disorder / metabolism
  • Child
  • Child, Preschool
  • Female
  • Gene Dosage*
  • Genome-Wide Association Study
  • Humans
  • Ion Channels / genetics*
  • Ion Channels / metabolism
  • Ion Transport / genetics
  • Male
  • Mitochondrial Proteins / genetics*
  • Mitochondrial Proteins / metabolism
  • Oxidative Phosphorylation*
  • Synapses / genetics*
  • Synapses / metabolism


  • Ion Channels
  • Mitochondrial Proteins