Reassessing the role of mitochondrial DNA mutations in autism spectrum disorder.

ABSTRACT:

Background

There is increasing evidence that impairment of mitochondrial energy metabolism plays an important role in the pathophysiology of autism spectrum disorders (ASD; OMIM number: 209850). A significant proportion of ASD cases display biochemical alterations suggestive of mitochondrial dysfunction and several studies have reported that mutations in the mitochondrial DNA (mtDNA) molecule could be involved in the disease phenotype.

Methods

We analysed a cohort of 148 patients with idiopathic ASD for a number of mutations proposed in the literature as pathogenic in ASD. We also carried out a case control association study for the most common European haplogroups (hgs) and their diagnostic single nucleotide polymorphisms (SNPs) by comparing cases with 753 healthy and ethni

SUBMITTER: Alvarez-Iglesias V 

PROVIDER: S-EPMC3080282 | biostudies-literature | 2011 Apr

REPOSITORIES: biostudies-literature