title: 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 ethnically matched controls.
  
  
  RESULTS
  We did not find statistical support for an association between mtDNA mutations or polymorphisms and ASD.
  
  
  CONCLUSIONS
  Our results are compatible with the idea that mtDNA mutations are not a relevant cause of ASD and the frequent observation of concomitant mitochondrial dysfunction and ASD could be due to nuclear factors influencing mitochondrion functions or to a more complex interplay between the nucleus and the mitochondrion/mtDNA.
authors.affiliation: Unidade de Xenética, Instituto de Medicina Legal and Departamento de Anatomía Patolóxica e Ciencias Forenses, Facultade de Medicina, Universidade de Santiago de Compostela, Galicia, Spain.
authors.forename: Vanesa
authors.initials: V
authors.lastname: Álvarez-Iglesias
authors.forename: Ana
authors.initials: A
authors.lastname: Mosquera-Miguel
authors.forename: Ivón
authors.initials: I
authors.lastname: Cuscó
authors.forename: Ángel
authors.initials: Á
authors.lastname: Carracedo
authors.forename: Luis Alberto
authors.initials: LA
authors.lastname: Pérez-Jurado
authors.forename: Antonio
authors.initials: A
authors.lastname: Salas
mesh_terms: D000328:Adult; D002648:Child; D002659:Child Development Disorders, Pervasive / Q000235:genetics*; D015331:Cohort Studies; D004272:DNA, Mitochondrial / Q000235:genetics*; D005820:Genetic Testing; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D013030:Spain
chemical_list: D004272:DNA, Mitochondrial