Mitochondrial and ion channel gene alterations in autism

作者：Smith Moyra; Flodman Pamela L; Gargus John J; Simon Mariella T; Verrell Kimberley; Haas Richard; Reiner Gail E; Naviaux Robert; Osann Katherine; Spence M Anne; Wallace Douglas C^*

来源：Biochimica et Biophysica Acta-Bioenergetics, 2012, 1817(10): 1796-1802.

DOI：10.1016/j.bbabio.2012.04.004

• Autism
• Mitochondria
• OXPHOS
• Copy number variants (CNVs)
• Calcium channel
• Synapses

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 >= 100 kb and CNVs of >= 10 Kb were markedly increased in probands over parents and in probands and parents over controls. Evaluation of CNVs >= 1 Mb 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).

• 出版日期2012-10